Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature

Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature

<b>Background</b>: Baraitser–Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser–Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two...

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Bibliographic Details
Main Authors: Sara Ghiselli, Giulia Parmeggiani, Giulia Zambonini, Domenico Cuda
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Journal of Clinical Medicine
Subjects:
hearing loss
Baraitser–Winter Syndrome
ACTB gene
ACTG1 gene
Autosomal dominant non-syndromic hearing loss 20/26
Online Access:https://www.mdpi.com/2077-0383/13/5/1500

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https://www.mdpi.com/2077-0383/13/5/1500

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