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Expanding the Genetic and Phenotypic Relevance of CLCN4 Variants in Neurodevelopmental Condition: 13 New Patients.

Hailan He,Xinyi Li, G. A. Guzman,Stefanie Bungert-Plümke,Arne Franzen,XueQin Lin,Hongmin Zhu, Guilan Peng,Hongwei Zhang,Yonglin Yu,Suzhen Sun, Zhongqin Huang,Qiongxiang Zhai,Zheng Chen,Jing Peng,Raul E. Guzman

JOURNAL OF NEUROLOGY（2024）

引用 0|浏览23
关键词
CLCN4,X-linked,Neurodevelopmental disorder,Loss of function,Heterodimerization
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