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

标题
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 103, Issue 5, Pages 794-807
出版商
Elsevier BV
发表日期
2018-10-26
DOI
10.1016/j.ajhg.2018.09.014

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