Article
A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism.
Brain & development - 1 Nov 2020
Yi Xiaoli, Yuan Xinyu, Xie Hua, Chen Xiaoli, Zhu Yanli
Abstract excerpt
BACKGROUND: Agenesis of the corpus callosum (ACC) is a relatively common brain malformation in children with developmental disabilities, caused by mutations in many genes. These genetic causes are characterized by their extreme heterogeneity with more than 300 causative genes identified to date. CASE REPORT: We describe two new cases from a three-generation family with ACC and a de novo mutation of the sonic...
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