Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly inherited missense variants [p.(Asn283Ser); p.(Thr1...

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Bibliographic Details
Main Authors: Isabelle Schrauwen, Khurram Liaqat, Isabelle Schatteman, Thashi Bharadwaj, Abdul Nasir, Anushree Acharya, Wasim Ahmad, Guy Van Camp, Suzanne M. Leal
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:Genes
Subjects:
autosomal dominant inheritance
exome sequencing
<i>GREB1L</i>
profound nonsyndromic hearing impairment
cochlear aplasia
cochlear nerve aplasia
Online Access:https://www.mdpi.com/2073-4425/11/6/687

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https://www.mdpi.com/2073-4425/11/6/687

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