Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Purpose: Genetic defects that impair growth plate chondrogenesis cause a phenotype that varies from skeletal dysplasia to mild short stature with or without other syndromic features. In many individuals with impaired skeletal growth, the genetic causes remain unknown. Method: Exome sequence was perf...

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Main Authors: Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Elaine Zhou, Isabella Herman, Adrian Temnycky, Philip Whalen, Gene Elliot, Ellen W. Leschek, Robin Wijngaard, Ronald van Beek, Annemarie de Vreugd, Maaike C. de Vries, Clara D.M. van Karnebeek, Machteld M. Oud, Thomas C. Markello, Kevin M. Barnes, Hadil Alrohaif, Hudson H. Freeze, William A. Gahl, May Christine V. Malicdan, Jennifer E. Posey, James R. Lupski, Jeffrey Baron
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
Growth
Neurodevelopmental abnormalities
Receptor trafficking
WASH complex
WASHC3
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424010616

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http://www.sciencedirect.com/science/article/pii/S2949774424010616

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