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Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2018.09.014
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Abstract

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Categories
Genetics
Date

November 1, 2018

Authors
Marie MorimotoHelen Waller-EvansZineb AmmousXiaofei SongKevin A. StraussDavut PehlivanClaudia Gonzaga-JaureguiErik G. PuffenbergerCharles R. HolstEnder KaracaKarlla W. BrigattiEmily MaguireZeynep H. Coban-AkdemirAkiko AmagataC. Christopher LauXenia Chepa-LotreaEllen MacnamaraTulay TosSedat IsikayMichele NehrebeckyJohn D. OvertonMatthew KleinThomas C. MarkelloJennifer E. PoseyDavid R. AdamsEmyr Lloyd-EvansJames R. LupskiWilliam A. GahlMay Christine V. Malicdan
Publisher

Elsevier BV

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