A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay

Clin Dysmorphol. 2024 Dec 9. doi: 10.1097/MCD.0000000000000513. Online ahead of print.

NO ABSTRACT

PMID:39807618 | DOI:10.1097/MCD.0000000000000513