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Two male sibs with severe micrognathia and a missense variant in MED12
by
Prescott, Trine E
,
Kulseth, Mari Ann
,
Heimdal, Ketil R
,
Stadheim, Barbro
,
Hopp, Einar
,
Gambin, Tomek
,
Coban Akdemir, Zeynep H
,
Jhangiani, Shalini N
,
Muzny, Donna M
,
Gibbs, Richard A
,
Lupski, James R
,
Stray-Pedersen, Asbjørg
Published in
European journal of medical genetics
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European Journal Of Medical Genetics
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Genes, X-Linked
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Genetic Association Studies
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Genetics & Heredity
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Genotype
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Humans
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Infant
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Intellectual Disability
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Life Sciences & Biomedicine
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Male
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Med12
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Mediator Complex - Genetics
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Medical Education
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Mental Retardation
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Micrognathia
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Micrognathism - Diagnosis
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Micrognathism - Genetics
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Mutation, Missense
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Pedigree
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Phenotype
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Elsevier Sciencedirect Journals
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Elsevier:jisc Collections:elsevier Read And Publish Agreement 2022-2024:Freedom Collection (Reading List)
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