THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

Abstract Background Prelingual hearing impairment (HI) is genetically highly heterogenous. Early diagnosis and intervention are essential for psychosocial development. In this study we investigated a consanguineous family from Pakistan with autosomal recessive (AR) non-syndromic sensorineural HI (NS...

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Bibliographic Details
Main Authors: Thashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Format: Article
Language:English
Published: BMC 2024-12-01
Series:BMC Medical Genomics
Subjects:
Autosomal recessive non-syndromic hearing impairment
Consanguinity
Exome sequencing
Inner ear
Thrombospondin
THBS1
Online Access:https://doi.org/10.1186/s12920-024-02060-w
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