Biallelic Loss-of-function Variants in CACHD1 Cause a Novel Neurodevelopmental Syndrome with Facial Dysmorphism and Multisystem Congenital Abnormalities
GENETICS IN MEDICINE（2024）
Key words
CACHD1,Human stem cell-derived neural,progenitors,Neurodevelopmental disorders,Voltage-gated calcium channels,Zebrafish
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