A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism

Yi, XL; Yuan, XY; Xie, H; Chen, XL; Zhu, YL

Zhu, YL (corresponding author), Capital Inst Pediat, Dept Neurol, 2 Ya Bao Rd, Beijing 100020, Peoples R China.

BRAIN & DEVELOPMENT, 2020; 42 (10): 771

Abstract

Background: Agenesis of the corpus callosum (ACC) is a relatively common brain malformation in children with developmental disabilities, caused by mut......

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