Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
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im November 2018 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 25 October 2018
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2018
@uk
name
Bi-allelic CCDC47 Variants Cau ...... and Global Developmental Delay
@en
Bi-allelic CCDC47 Variants Cau ...... and Global Developmental Delay
@nl
type
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Bi-allelic CCDC47 Variants Cau ...... and Global Developmental Delay
@en
Bi-allelic CCDC47 Variants Cau ...... and Global Developmental Delay
@nl
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Bi-allelic CCDC47 Variants Cau ...... and Global Developmental Delay
@en
Bi-allelic CCDC47 Variants Cau ...... and Global Developmental Delay
@nl
P2093
P2860
P50
P1476
Bi-allelic CCDC47 Variants Cau ...... and Global Developmental Delay
@en
P2093
Akiko Amagata
C Christopher Lau
David R Adams
Davut Pehlivan
Emily Maguire
Emyr Lloyd-Evans
Ender Karaca
Erik G Puffenberger
Helen Waller-Evans
James R Lupski
P2860
P304
P356
10.1016/J.AJHG.2018.09.014
P407
P577
2018-10-25T00:00:00Z