eP263: A pathogenic deletion at 13q32.1q33.1 presenting with bilateral sensorineural hearing loss and pigmentation anomalies, mimicking Waardenburg syndrome

Autor: Tung, Moon Ley, Warner, Taylor, Bombei, Hannah, Safina, Nicole, Nagy, Jaime
Zdroj: Genetics in Medicine; March 2022, Vol. 24 Issue: 3, Number 3 Supplement 1 pS166-S167, 2p
Databáze: Supplemental Index