De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8.
doi: 10.1016/j.ajhg.2024.05.004.
Online ahead of print.