Loading…
X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study)
ABSTRACT X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity...
Saved in:
| Published in: | Journal of bone and mineral research 2020-05, Vol.35 (5), p.920-931 |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c3885-bf3882d7cf587e67c11cb4930f0c2eef5ce4a344d23a6d8cc7aa1617077cb45c3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c3885-bf3882d7cf587e67c11cb4930f0c2eef5ce4a344d23a6d8cc7aa1617077cb45c3 |
| container_end_page | 931 |
| container_issue | 5 |
| container_start_page | 920 |
| container_title | Journal of bone and mineral research |
| container_volume | 35 |
| creator | Smith, Pamela S Gottesman, Gary S Zhang, Fan Cook, Fiona Ramirez, Beatriz Wenkert, Deborah Wollberg, Valerie Huskey, Margaret Mumm, Steven Whyte, Michael P |
| description | ABSTRACT
X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non‐coding PHEX 3′‐UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age‐ and sex‐matched patients with XLH but without the 3′‐UTR mutation. The “UTR” and “XLH” groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps |
| doi_str_mv | 10.1002/jbmr.3955 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2334704217</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2334704217</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3885-bf3882d7cf587e67c11cb4930f0c2eef5ce4a344d23a6d8cc7aa1617077cb45c3</originalsourceid><addsrcrecordid>eNp1kc1u00AUhUcIREPLghdAI7FpF07veMYeh0WlENoGlAgUGtHdaDK-Vib4D48N8i77bpB4Ex4pT8KEtCyQWB3p6tOne3QIecFgyADC882qaIZ8FEWPyIBFIQ9EnLDHZABJIgIQnB2RZ85tACCO4vgpOeJsxIADDMjd7W77Y2bLL5jSaV9X9bpy9Vq3WFj9mi5L-7XDvKdzm6f0rXWoHdKxc5WxnknpZ9uu6cfp5S3lu-0vr1reLOi8a3Vrq5KaYcjZ-OKano7pAtvGq9G09hvSiffstj8nVemvOf3Udml_dkKeZDp3-Pw-j8ny6vJmMg1mH67fTcazwPAkiYJV5iNMpcmiRGIsDWNmJUYcMjAhYhYZFJoLkYZcx2lijNSaxUyClJ6LDD8mpwdv3VS-nmtVYZ3BPNclVp1TIedCggiZ9Oirf9BN1TWl_06FAoAzGAnuqbMDZXxF12Cm6sYWuukVA7VfSO0XUvuFPPvy3titCkz_kg-TeOD8AHy3Ofb_N6n3b-aLP8rfFLmdjw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2400310943</pqid></control><display><type>article</type><title>X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study)</title><source>Oxford Journals Online</source><creator>Smith, Pamela S ; Gottesman, Gary S ; Zhang, Fan ; Cook, Fiona ; Ramirez, Beatriz ; Wenkert, Deborah ; Wollberg, Valerie ; Huskey, Margaret ; Mumm, Steven ; Whyte, Michael P</creator><creatorcontrib>Smith, Pamela S ; Gottesman, Gary S ; Zhang, Fan ; Cook, Fiona ; Ramirez, Beatriz ; Wenkert, Deborah ; Wollberg, Valerie ; Huskey, Margaret ; Mumm, Steven ; Whyte, Michael P</creatorcontrib><description>ABSTRACT
X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non‐coding PHEX 3′‐UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age‐ and sex‐matched patients with XLH but without the 3′‐UTR mutation. The “UTR” and “XLH” groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps < .0001). The UTR group was taller: mean ± SD height Z‐score (HZ) −1.0 ± 1.0 versus −2.0 ± 1.4 (p = .0034), with significantly greater height for females (−0.9 ± 0.7 versus −2.3 ± 1.4; p = .0050) but not males (−1.2 ± 1.1 versus −1.9 ± 1.5; p = .1541), respectively. Mean ± SD “arm span Z‐score” (AZ) did not differ between the UTR −0.8 ± 1.3 versus XLH −1.3 ± 1.8 groups (p = .2269). Consequently, the UTR group was more proportionate with a mean ∆Z (AZ – HZ) of 0.1 ± 0.6 versus 0.7 ± 1.0 (p = .0158), respectively. Compared to the XLH group, the UTR group had significantly higher fasting serum Pi and renal tubular threshold maximum for phosphorus per glomerular filtration rate (TmP/GFR) (ps ≤ .0060), serum FGF23 concentrations within the reference range (p = .0068), and similar serum alkaline phosphatase levels (p = .6513). UTR lumbar spine bone mineral density Z‐score was higher (p = .0343). Thus, the 3′‐UTR variant of XLH is distinctly mild, especially in girls and women, posing challenges for its recognition and management. © 2020 American Society for Bone and Mineral Research.</description><identifier>ISSN: 0884-0431</identifier><identifier>EISSN: 1523-4681</identifier><identifier>DOI: 10.1002/jbmr.3955</identifier><identifier>PMID: 31910300</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Alkaline phosphatase ; Bone mineral density ; BUROSUMAB ; CALCITRIOL ; Case-Control Studies ; Child ; Child, Preschool ; Children ; DXA ; Familial Hypophosphatemic Rickets - genetics ; Female ; FGF23 ; Fibroblast Growth Factor-23 ; Fibroblast Growth Factors - genetics ; GENE DELETION ; GENE DOSAGE ; GENU VALGUM ; GENU VARUM ; Glomerular filtration rate ; GROWTH ; HEIGHT ; Humans ; Hypophosphatemia ; Male ; Medical treatment ; METABOLIC BONE DISEASE ; Middle Aged ; Mineralization ; Monoclonal antibodies ; Mutation ; NON‐CODING MUTATION ; OSTEOMALACIA ; PHEX Phosphate Regulating Neutral Endopeptidase - genetics ; PHOSPHATE ; PHOSPHATONIN ; PHOSPHORUS ; POLYADENYLATION ; Retrospective Studies ; RICKETS ; SKELETAL DEFORMITY ; Spine (lumbar) ; Young Adult</subject><ispartof>Journal of bone and mineral research, 2020-05, Vol.35 (5), p.920-931</ispartof><rights>2020 American Society for Bone and Mineral Research</rights><rights>2020 American Society for Bone and Mineral Research.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3885-bf3882d7cf587e67c11cb4930f0c2eef5ce4a344d23a6d8cc7aa1617077cb45c3</citedby><cites>FETCH-LOGICAL-c3885-bf3882d7cf587e67c11cb4930f0c2eef5ce4a344d23a6d8cc7aa1617077cb45c3</cites><orcidid>0000-0002-8755-8490</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31910300$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Smith, Pamela S</creatorcontrib><creatorcontrib>Gottesman, Gary S</creatorcontrib><creatorcontrib>Zhang, Fan</creatorcontrib><creatorcontrib>Cook, Fiona</creatorcontrib><creatorcontrib>Ramirez, Beatriz</creatorcontrib><creatorcontrib>Wenkert, Deborah</creatorcontrib><creatorcontrib>Wollberg, Valerie</creatorcontrib><creatorcontrib>Huskey, Margaret</creatorcontrib><creatorcontrib>Mumm, Steven</creatorcontrib><creatorcontrib>Whyte, Michael P</creatorcontrib><title>X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study)</title><title>Journal of bone and mineral research</title><addtitle>J Bone Miner Res</addtitle><description>ABSTRACT
X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non‐coding PHEX 3′‐UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age‐ and sex‐matched patients with XLH but without the 3′‐UTR mutation. The “UTR” and “XLH” groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps < .0001). The UTR group was taller: mean ± SD height Z‐score (HZ) −1.0 ± 1.0 versus −2.0 ± 1.4 (p = .0034), with significantly greater height for females (−0.9 ± 0.7 versus −2.3 ± 1.4; p = .0050) but not males (−1.2 ± 1.1 versus −1.9 ± 1.5; p = .1541), respectively. Mean ± SD “arm span Z‐score” (AZ) did not differ between the UTR −0.8 ± 1.3 versus XLH −1.3 ± 1.8 groups (p = .2269). Consequently, the UTR group was more proportionate with a mean ∆Z (AZ – HZ) of 0.1 ± 0.6 versus 0.7 ± 1.0 (p = .0158), respectively. Compared to the XLH group, the UTR group had significantly higher fasting serum Pi and renal tubular threshold maximum for phosphorus per glomerular filtration rate (TmP/GFR) (ps ≤ .0060), serum FGF23 concentrations within the reference range (p = .0068), and similar serum alkaline phosphatase levels (p = .6513). UTR lumbar spine bone mineral density Z‐score was higher (p = .0343). Thus, the 3′‐UTR variant of XLH is distinctly mild, especially in girls and women, posing challenges for its recognition and management. © 2020 American Society for Bone and Mineral Research.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alkaline phosphatase</subject><subject>Bone mineral density</subject><subject>BUROSUMAB</subject><subject>CALCITRIOL</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>DXA</subject><subject>Familial Hypophosphatemic Rickets - genetics</subject><subject>Female</subject><subject>FGF23</subject><subject>Fibroblast Growth Factor-23</subject><subject>Fibroblast Growth Factors - genetics</subject><subject>GENE DELETION</subject><subject>GENE DOSAGE</subject><subject>GENU VALGUM</subject><subject>GENU VARUM</subject><subject>Glomerular filtration rate</subject><subject>GROWTH</subject><subject>HEIGHT</subject><subject>Humans</subject><subject>Hypophosphatemia</subject><subject>Male</subject><subject>Medical treatment</subject><subject>METABOLIC BONE DISEASE</subject><subject>Middle Aged</subject><subject>Mineralization</subject><subject>Monoclonal antibodies</subject><subject>Mutation</subject><subject>NON‐CODING MUTATION</subject><subject>OSTEOMALACIA</subject><subject>PHEX Phosphate Regulating Neutral Endopeptidase - genetics</subject><subject>PHOSPHATE</subject><subject>PHOSPHATONIN</subject><subject>PHOSPHORUS</subject><subject>POLYADENYLATION</subject><subject>Retrospective Studies</subject><subject>RICKETS</subject><subject>SKELETAL DEFORMITY</subject><subject>Spine (lumbar)</subject><subject>Young Adult</subject><issn>0884-0431</issn><issn>1523-4681</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp1kc1u00AUhUcIREPLghdAI7FpF07veMYeh0WlENoGlAgUGtHdaDK-Vib4D48N8i77bpB4Ex4pT8KEtCyQWB3p6tOne3QIecFgyADC882qaIZ8FEWPyIBFIQ9EnLDHZABJIgIQnB2RZ85tACCO4vgpOeJsxIADDMjd7W77Y2bLL5jSaV9X9bpy9Vq3WFj9mi5L-7XDvKdzm6f0rXWoHdKxc5WxnknpZ9uu6cfp5S3lu-0vr1reLOi8a3Vrq5KaYcjZ-OKano7pAtvGq9G09hvSiffstj8nVemvOf3Udml_dkKeZDp3-Pw-j8ny6vJmMg1mH67fTcazwPAkiYJV5iNMpcmiRGIsDWNmJUYcMjAhYhYZFJoLkYZcx2lijNSaxUyClJ6LDD8mpwdv3VS-nmtVYZ3BPNclVp1TIedCggiZ9Oirf9BN1TWl_06FAoAzGAnuqbMDZXxF12Cm6sYWuukVA7VfSO0XUvuFPPvy3titCkz_kg-TeOD8AHy3Ofb_N6n3b-aLP8rfFLmdjw</recordid><startdate>202005</startdate><enddate>202005</enddate><creator>Smith, Pamela S</creator><creator>Gottesman, Gary S</creator><creator>Zhang, Fan</creator><creator>Cook, Fiona</creator><creator>Ramirez, Beatriz</creator><creator>Wenkert, Deborah</creator><creator>Wollberg, Valerie</creator><creator>Huskey, Margaret</creator><creator>Mumm, Steven</creator><creator>Whyte, Michael P</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</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>7QP</scope><scope>7TS</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-8755-8490</orcidid></search><sort><creationdate>202005</creationdate><title>X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study)</title><author>Smith, Pamela S ; Gottesman, Gary S ; Zhang, Fan ; Cook, Fiona ; Ramirez, Beatriz ; Wenkert, Deborah ; Wollberg, Valerie ; Huskey, Margaret ; Mumm, Steven ; Whyte, Michael P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3885-bf3882d7cf587e67c11cb4930f0c2eef5ce4a344d23a6d8cc7aa1617077cb45c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alkaline phosphatase</topic><topic>Bone mineral density</topic><topic>BUROSUMAB</topic><topic>CALCITRIOL</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>DXA</topic><topic>Familial Hypophosphatemic Rickets - genetics</topic><topic>Female</topic><topic>FGF23</topic><topic>Fibroblast Growth Factor-23</topic><topic>Fibroblast Growth Factors - genetics</topic><topic>GENE DELETION</topic><topic>GENE DOSAGE</topic><topic>GENU VALGUM</topic><topic>GENU VARUM</topic><topic>Glomerular filtration rate</topic><topic>GROWTH</topic><topic>HEIGHT</topic><topic>Humans</topic><topic>Hypophosphatemia</topic><topic>Male</topic><topic>Medical treatment</topic><topic>METABOLIC BONE DISEASE</topic><topic>Middle Aged</topic><topic>Mineralization</topic><topic>Monoclonal antibodies</topic><topic>Mutation</topic><topic>NON‐CODING MUTATION</topic><topic>OSTEOMALACIA</topic><topic>PHEX Phosphate Regulating Neutral Endopeptidase - genetics</topic><topic>PHOSPHATE</topic><topic>PHOSPHATONIN</topic><topic>PHOSPHORUS</topic><topic>POLYADENYLATION</topic><topic>Retrospective Studies</topic><topic>RICKETS</topic><topic>SKELETAL DEFORMITY</topic><topic>Spine (lumbar)</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Smith, Pamela S</creatorcontrib><creatorcontrib>Gottesman, Gary S</creatorcontrib><creatorcontrib>Zhang, Fan</creatorcontrib><creatorcontrib>Cook, Fiona</creatorcontrib><creatorcontrib>Ramirez, Beatriz</creatorcontrib><creatorcontrib>Wenkert, Deborah</creatorcontrib><creatorcontrib>Wollberg, Valerie</creatorcontrib><creatorcontrib>Huskey, Margaret</creatorcontrib><creatorcontrib>Mumm, Steven</creatorcontrib><creatorcontrib>Whyte, Michael P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Physical Education Index</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of bone and mineral research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Smith, Pamela S</au><au>Gottesman, Gary S</au><au>Zhang, Fan</au><au>Cook, Fiona</au><au>Ramirez, Beatriz</au><au>Wenkert, Deborah</au><au>Wollberg, Valerie</au><au>Huskey, Margaret</au><au>Mumm, Steven</au><au>Whyte, Michael P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study)</atitle><jtitle>Journal of bone and mineral research</jtitle><addtitle>J Bone Miner Res</addtitle><date>2020-05</date><risdate>2020</risdate><volume>35</volume><issue>5</issue><spage>920</spage><epage>931</epage><pages>920-931</pages><issn>0884-0431</issn><eissn>1523-4681</eissn><abstract>ABSTRACT
X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non‐coding PHEX 3′‐UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age‐ and sex‐matched patients with XLH but without the 3′‐UTR mutation. The “UTR” and “XLH” groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90% of the XLH group had received medical treatment for their disorder, including 0% versus 85% of the females, respectively (ps < .0001). The UTR group was taller: mean ± SD height Z‐score (HZ) −1.0 ± 1.0 versus −2.0 ± 1.4 (p = .0034), with significantly greater height for females (−0.9 ± 0.7 versus −2.3 ± 1.4; p = .0050) but not males (−1.2 ± 1.1 versus −1.9 ± 1.5; p = .1541), respectively. Mean ± SD “arm span Z‐score” (AZ) did not differ between the UTR −0.8 ± 1.3 versus XLH −1.3 ± 1.8 groups (p = .2269). Consequently, the UTR group was more proportionate with a mean ∆Z (AZ – HZ) of 0.1 ± 0.6 versus 0.7 ± 1.0 (p = .0158), respectively. Compared to the XLH group, the UTR group had significantly higher fasting serum Pi and renal tubular threshold maximum for phosphorus per glomerular filtration rate (TmP/GFR) (ps ≤ .0060), serum FGF23 concentrations within the reference range (p = .0068), and similar serum alkaline phosphatase levels (p = .6513). UTR lumbar spine bone mineral density Z‐score was higher (p = .0343). Thus, the 3′‐UTR variant of XLH is distinctly mild, especially in girls and women, posing challenges for its recognition and management. © 2020 American Society for Bone and Mineral Research.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>31910300</pmid><doi>10.1002/jbmr.3955</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0002-8755-8490</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0884-0431 |
| ispartof | Journal of bone and mineral research, 2020-05, Vol.35 (5), p.920-931 |
| issn | 0884-0431 1523-4681 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2334704217 |
| source | Oxford Journals Online |
| subjects | Adolescent Adult Alkaline phosphatase Bone mineral density BUROSUMAB CALCITRIOL Case-Control Studies Child Child, Preschool Children DXA Familial Hypophosphatemic Rickets - genetics Female FGF23 Fibroblast Growth Factor-23 Fibroblast Growth Factors - genetics GENE DELETION GENE DOSAGE GENU VALGUM GENU VARUM Glomerular filtration rate GROWTH HEIGHT Humans Hypophosphatemia Male Medical treatment METABOLIC BONE DISEASE Middle Aged Mineralization Monoclonal antibodies Mutation NON‐CODING MUTATION OSTEOMALACIA PHEX Phosphate Regulating Neutral Endopeptidase - genetics PHOSPHATE PHOSPHATONIN PHOSPHORUS POLYADENYLATION Retrospective Studies RICKETS SKELETAL DEFORMITY Spine (lumbar) Young Adult |
| title | X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study) |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-26T12%3A07%3A53IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=X%E2%80%90Linked%20Hypophosphatemia:%20Uniquely%20Mild%20Disease%20Associated%20With%20PHEX%203%E2%80%B2%E2%80%90UTR%20Mutation%20c.231A%3EG%20(A%20Retrospective%20Case%E2%80%93Control%20Study)&rft.jtitle=Journal%20of%20bone%20and%20mineral%20research&rft.au=Smith,%20Pamela%20S&rft.date=2020-05&rft.volume=35&rft.issue=5&rft.spage=920&rft.epage=931&rft.pages=920-931&rft.issn=0884-0431&rft.eissn=1523-4681&rft_id=info:doi/10.1002/jbmr.3955&rft_dat=%3Cproquest_cross%3E2334704217%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c3885-bf3882d7cf587e67c11cb4930f0c2eef5ce4a344d23a6d8cc7aa1617077cb45c3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2400310943&rft_id=info:pmid/31910300&rfr_iscdi=true |