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Variants in WASHC3, a Component of the WASH Complex, Cause Short Stature, Variable Neurodevelopmental Abnormalities, and Distinctive Facial Dysmorphism

Youn Hee Jee,Julian C. Lui,Dana Marafi,Zhi-Jie Xia, Ruchika Bhatia,Elaine Zhou,Adrian Temnycky,Ellen W. Leschek,Robin Wijngaard,Clara D. M. van Karnebeek, Maaike de Vries,Machteld M. Oud,Thomas C. Markello,Kevin M. Barnes,Hudson H. Freeze,William A. Gahl,May Christine V. Malicdan,Jennifer E. Posey,James R. Lupski,Jeffrey Baron

HORMONE RESEARCH IN PAEDIATRICS（2024）

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关键词
WASHC3,wash complex,receptor trafficking,growth,neurodevelopmental abnormalities
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