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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported varian...
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Published in: | Cold Spring Harbor molecular case studies 2021-06, Vol.7 (3), p.a005991 |
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creator | Singh, Ram Cohen, Ana S A Poulton, Cathryn Hjortshøj, Tina Duelund Akahira-Azuma, Moe Mendiratta, Geetu Khan, Wahab A Azmanov, Dimitar N Woodward, Karen J Kirchhoff, Maria Shi, Lisong Edelmann, Lisa Baynam, Gareth Scott, Stuart A Jabs, Ethylin Wang |
description | The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the
gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported
variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however,
gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases (
,
,
,
, and
). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of
is consistent with the reported loss-of-function
variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function
sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with
deletions. Taken together, this case series adds to the previously reported patients with
and/or
sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern. |
doi_str_mv | 10.1101/mcs.a005991 |
format | article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8208047</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2555681423</sourcerecordid><originalsourceid>FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543</originalsourceid><addsrcrecordid>eNpdkc1LAzEQxYMoKurJuyx4EaQ6k49N9iJI_QRBEMVjSLNpXc1uatIt9L83ai3qaWYyP9688AjZRzhBBDxtbToxAKKqcI1sUybZgCrJ1ld9KbbIXkqvAIBlWQlJN8kW44gSJN0mzxfOu1kTuiKMi8uHq8J0dTG8HRbW9Mmlwoy6EFvji_TWe1-0IU5fgg-TxRc48WGUd7WbOx-mretmX5M3i12yMTY-ub1l3SFPV5ePw5vB3f317fD8bmA5VLNBRTkFJwUHygxHq-oSRcVRKsdGiqNQebKlsOrzGVCISrFxDY5JwajgbIecfetO-1HrapstROP1NDatiQsdTKP_brrmRU_CXCsKCrjMAkdLgRjee5dmum2Sdd6bzoU-6XwEBEqkVUYP_6GvoY9d_l6mhCgVcsoydfxN2RhSim68MoOgPzPTOTO9zCzTB7_9r9ifhNgHlKqPtg</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2555681423</pqid></control><display><type>article</type><title>Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay</title><source>PubMed (Medline)</source><creator>Singh, Ram ; Cohen, Ana S A ; Poulton, Cathryn ; Hjortshøj, Tina Duelund ; Akahira-Azuma, Moe ; Mendiratta, Geetu ; Khan, Wahab A ; Azmanov, Dimitar N ; Woodward, Karen J ; Kirchhoff, Maria ; Shi, Lisong ; Edelmann, Lisa ; Baynam, Gareth ; Scott, Stuart A ; Jabs, Ethylin Wang</creator><creatorcontrib>Singh, Ram ; Cohen, Ana S A ; Poulton, Cathryn ; Hjortshøj, Tina Duelund ; Akahira-Azuma, Moe ; Mendiratta, Geetu ; Khan, Wahab A ; Azmanov, Dimitar N ; Woodward, Karen J ; Kirchhoff, Maria ; Shi, Lisong ; Edelmann, Lisa ; Baynam, Gareth ; Scott, Stuart A ; Jabs, Ethylin Wang</creatorcontrib><description>The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the
gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported
variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however,
gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases (
,
,
,
, and
). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of
is consistent with the reported loss-of-function
variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function
sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with
deletions. Taken together, this case series adds to the previously reported patients with
and/or
sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern.</description><identifier>ISSN: 2373-2865</identifier><identifier>ISSN: 2373-2873</identifier><identifier>EISSN: 2373-2873</identifier><identifier>DOI: 10.1101/mcs.a005991</identifier><identifier>PMID: 34117072</identifier><language>eng</language><publisher>United States: Cold Spring Harbor Laboratory Press</publisher><subject>Adolescent ; Cell differentiation ; Cell proliferation ; Child ; Child, Preschool ; Chromosome 19 ; Cranial sutures ; Craniosynostosis ; Deletion ; Developmental Disabilities - genetics ; Disabilities ; DNA Copy Number Variations ; DNA microarrays ; Ets-2 protein ; Female ; Gene Deletion ; Genes ; Genetic Association Studies ; Genetic Predisposition to Disease - genetics ; Genetic screening ; Genetic Testing ; Haploinsufficiency ; Heterozygote ; Humans ; Intellectual disabilities ; Intellectual Disability - genetics ; Macrocephaly ; Male ; Membrane Proteins - genetics ; Morphology ; Neurodevelopmental disorders ; Neurodevelopmental Disorders - genetics ; Phenotype ; Phenotypes ; Proto-Oncogene Protein c-ets-2 - genetics ; Repressor Proteins - genetics ; Research Report ; Sequences ; Signal transduction ; Skull - abnormalities ; Skull - growth & development ; Skull - pathology ; Sodium-Potassium-Exchanging ATPase - genetics ; Transcription Factors - genetics</subject><ispartof>Cold Spring Harbor molecular case studies, 2021-06, Vol.7 (3), p.a005991</ispartof><rights>2021 Singh et al.; Published by Cold Spring Harbor Laboratory Press.</rights><rights>Copyright Cold Spring Harbor Laboratory Press Jun 2021</rights><rights>2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543</citedby><cites>FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543</cites><orcidid>0000-0001-5720-1864 ; 0000-0001-8983-5466</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208047/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208047/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34117072$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Singh, Ram</creatorcontrib><creatorcontrib>Cohen, Ana S A</creatorcontrib><creatorcontrib>Poulton, Cathryn</creatorcontrib><creatorcontrib>Hjortshøj, Tina Duelund</creatorcontrib><creatorcontrib>Akahira-Azuma, Moe</creatorcontrib><creatorcontrib>Mendiratta, Geetu</creatorcontrib><creatorcontrib>Khan, Wahab A</creatorcontrib><creatorcontrib>Azmanov, Dimitar N</creatorcontrib><creatorcontrib>Woodward, Karen J</creatorcontrib><creatorcontrib>Kirchhoff, Maria</creatorcontrib><creatorcontrib>Shi, Lisong</creatorcontrib><creatorcontrib>Edelmann, Lisa</creatorcontrib><creatorcontrib>Baynam, Gareth</creatorcontrib><creatorcontrib>Scott, Stuart A</creatorcontrib><creatorcontrib>Jabs, Ethylin Wang</creatorcontrib><title>Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay</title><title>Cold Spring Harbor molecular case studies</title><addtitle>Cold Spring Harb Mol Case Stud</addtitle><description>The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the
gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported
variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however,
gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases (
,
,
,
, and
). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of
is consistent with the reported loss-of-function
variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function
sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with
deletions. Taken together, this case series adds to the previously reported patients with
and/or
sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern.</description><subject>Adolescent</subject><subject>Cell differentiation</subject><subject>Cell proliferation</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome 19</subject><subject>Cranial sutures</subject><subject>Craniosynostosis</subject><subject>Deletion</subject><subject>Developmental Disabilities - genetics</subject><subject>Disabilities</subject><subject>DNA Copy Number Variations</subject><subject>DNA microarrays</subject><subject>Ets-2 protein</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Genes</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic screening</subject><subject>Genetic Testing</subject><subject>Haploinsufficiency</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - genetics</subject><subject>Macrocephaly</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Morphology</subject><subject>Neurodevelopmental disorders</subject><subject>Neurodevelopmental Disorders - genetics</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Proto-Oncogene Protein c-ets-2 - genetics</subject><subject>Repressor Proteins - genetics</subject><subject>Research Report</subject><subject>Sequences</subject><subject>Signal transduction</subject><subject>Skull - abnormalities</subject><subject>Skull - growth & development</subject><subject>Skull - pathology</subject><subject>Sodium-Potassium-Exchanging ATPase - genetics</subject><subject>Transcription Factors - genetics</subject><issn>2373-2865</issn><issn>2373-2873</issn><issn>2373-2873</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNpdkc1LAzEQxYMoKurJuyx4EaQ6k49N9iJI_QRBEMVjSLNpXc1uatIt9L83ai3qaWYyP9688AjZRzhBBDxtbToxAKKqcI1sUybZgCrJ1ld9KbbIXkqvAIBlWQlJN8kW44gSJN0mzxfOu1kTuiKMi8uHq8J0dTG8HRbW9Mmlwoy6EFvji_TWe1-0IU5fgg-TxRc48WGUd7WbOx-mretmX5M3i12yMTY-ub1l3SFPV5ePw5vB3f317fD8bmA5VLNBRTkFJwUHygxHq-oSRcVRKsdGiqNQebKlsOrzGVCISrFxDY5JwajgbIecfetO-1HrapstROP1NDatiQsdTKP_brrmRU_CXCsKCrjMAkdLgRjee5dmum2Sdd6bzoU-6XwEBEqkVUYP_6GvoY9d_l6mhCgVcsoydfxN2RhSim68MoOgPzPTOTO9zCzTB7_9r9ifhNgHlKqPtg</recordid><startdate>202106</startdate><enddate>202106</enddate><creator>Singh, Ram</creator><creator>Cohen, Ana S A</creator><creator>Poulton, Cathryn</creator><creator>Hjortshøj, Tina Duelund</creator><creator>Akahira-Azuma, Moe</creator><creator>Mendiratta, Geetu</creator><creator>Khan, Wahab A</creator><creator>Azmanov, Dimitar N</creator><creator>Woodward, Karen J</creator><creator>Kirchhoff, Maria</creator><creator>Shi, Lisong</creator><creator>Edelmann, Lisa</creator><creator>Baynam, Gareth</creator><creator>Scott, Stuart A</creator><creator>Jabs, Ethylin Wang</creator><general>Cold Spring Harbor Laboratory Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-5720-1864</orcidid><orcidid>https://orcid.org/0000-0001-8983-5466</orcidid></search><sort><creationdate>202106</creationdate><title>Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay</title><author>Singh, Ram ; Cohen, Ana S A ; Poulton, Cathryn ; Hjortshøj, Tina Duelund ; Akahira-Azuma, Moe ; Mendiratta, Geetu ; Khan, Wahab A ; Azmanov, Dimitar N ; Woodward, Karen J ; Kirchhoff, Maria ; Shi, Lisong ; Edelmann, Lisa ; Baynam, Gareth ; Scott, Stuart A ; Jabs, Ethylin Wang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c409t-92420e754023a41c8d61594178e3b84158594c65c815940155983fd0e37532543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adolescent</topic><topic>Cell differentiation</topic><topic>Cell proliferation</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome 19</topic><topic>Cranial sutures</topic><topic>Craniosynostosis</topic><topic>Deletion</topic><topic>Developmental Disabilities - genetics</topic><topic>Disabilities</topic><topic>DNA Copy Number Variations</topic><topic>DNA microarrays</topic><topic>Ets-2 protein</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genes</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genetic screening</topic><topic>Genetic Testing</topic><topic>Haploinsufficiency</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - genetics</topic><topic>Macrocephaly</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Morphology</topic><topic>Neurodevelopmental disorders</topic><topic>Neurodevelopmental Disorders - genetics</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Proto-Oncogene Protein c-ets-2 - genetics</topic><topic>Repressor Proteins - genetics</topic><topic>Research Report</topic><topic>Sequences</topic><topic>Signal transduction</topic><topic>Skull - abnormalities</topic><topic>Skull - growth & development</topic><topic>Skull - pathology</topic><topic>Sodium-Potassium-Exchanging ATPase - genetics</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Singh, Ram</creatorcontrib><creatorcontrib>Cohen, Ana S A</creatorcontrib><creatorcontrib>Poulton, Cathryn</creatorcontrib><creatorcontrib>Hjortshøj, Tina Duelund</creatorcontrib><creatorcontrib>Akahira-Azuma, Moe</creatorcontrib><creatorcontrib>Mendiratta, Geetu</creatorcontrib><creatorcontrib>Khan, Wahab A</creatorcontrib><creatorcontrib>Azmanov, Dimitar N</creatorcontrib><creatorcontrib>Woodward, Karen J</creatorcontrib><creatorcontrib>Kirchhoff, Maria</creatorcontrib><creatorcontrib>Shi, Lisong</creatorcontrib><creatorcontrib>Edelmann, Lisa</creatorcontrib><creatorcontrib>Baynam, Gareth</creatorcontrib><creatorcontrib>Scott, Stuart A</creatorcontrib><creatorcontrib>Jabs, Ethylin Wang</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Cold Spring Harbor molecular case studies</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Singh, Ram</au><au>Cohen, Ana S A</au><au>Poulton, Cathryn</au><au>Hjortshøj, Tina Duelund</au><au>Akahira-Azuma, Moe</au><au>Mendiratta, Geetu</au><au>Khan, Wahab A</au><au>Azmanov, Dimitar N</au><au>Woodward, Karen J</au><au>Kirchhoff, Maria</au><au>Shi, Lisong</au><au>Edelmann, Lisa</au><au>Baynam, Gareth</au><au>Scott, Stuart A</au><au>Jabs, Ethylin Wang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay</atitle><jtitle>Cold Spring Harbor molecular case studies</jtitle><addtitle>Cold Spring Harb Mol Case Stud</addtitle><date>2021-06</date><risdate>2021</risdate><volume>7</volume><issue>3</issue><spage>a005991</spage><pages>a005991-</pages><issn>2373-2865</issn><issn>2373-2873</issn><eissn>2373-2873</eissn><abstract>The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the
gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported
variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however,
gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay. Clinical genetic testing for fragile X and other relevant sequencing panels were negative; however, chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases (
,
,
,
, and
). Parental testing indicated that the aberrations were apparently de novo in two of the probands and were inherited in the one proband with the smallest deletion. Deletion of
is consistent with the reported loss-of-function
variants, prompting clinical copy-number-variant classifications of likely pathogenic. Moreover, the recent characterization of heterozygous loss-of-function
sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with
deletions. Taken together, this case series adds to the previously reported patients with
and/or
sequence variants and supports haploinsufficiency of both genes as a mechanism for a variable syndromic cranial phenotype with developmental delays and intellectual disability inherited in an autosomal dominant pattern.</abstract><cop>United States</cop><pub>Cold Spring Harbor Laboratory Press</pub><pmid>34117072</pmid><doi>10.1101/mcs.a005991</doi><orcidid>https://orcid.org/0000-0001-5720-1864</orcidid><orcidid>https://orcid.org/0000-0001-8983-5466</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Adolescent Cell differentiation Cell proliferation Child Child, Preschool Chromosome 19 Cranial sutures Craniosynostosis Deletion Developmental Disabilities - genetics Disabilities DNA Copy Number Variations DNA microarrays Ets-2 protein Female Gene Deletion Genes Genetic Association Studies Genetic Predisposition to Disease - genetics Genetic screening Genetic Testing Haploinsufficiency Heterozygote Humans Intellectual disabilities Intellectual Disability - genetics Macrocephaly Male Membrane Proteins - genetics Morphology Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Phenotype Phenotypes Proto-Oncogene Protein c-ets-2 - genetics Repressor Proteins - genetics Research Report Sequences Signal transduction Skull - abnormalities Skull - growth & development Skull - pathology Sodium-Potassium-Exchanging ATPase - genetics Transcription Factors - genetics |
title | Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay |
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