Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

Abstract Background The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate‐to‐severe hearing impairment. Methods Exome and custom capture next‐generation sequencing were used...

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Bibliographic Details
Main Authors: Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autosomal recessive
CABP2
hearing impairment
Online Access:https://doi.org/10.1002/mgg3.1866

Internet

https://doi.org/10.1002/mgg3.1866

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