eP262: De novo heterozygous variant in the RAB11Bgene presenting with combined cardiac defect and neurodevelopmental disorder: A case report

Autor: Tung, Moon Ley, Romoser, Shelby, Kotlarek, Jaclyn, Warner, Taylor, Calhoun, Amy, Safina, Nicole
Zdroj: Genetics in Medicine; March 2022, Vol. 24 Issue: 3, Number 3 Supplement 1 pS166-S166, 1p
Databáze: Supplemental Index