When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and some of her relatives) presented with moderate thro...

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Bibliographic Details
Main Authors: Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux, Christel Vaché, Corinne Baudoin, Mélodie Moclyn, Valérie Faugère, Michel Mondain, Eric Jeziorski, Anne-Françoise Roux, Marjolaine Willems
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Diagnostics
Subjects:
familial hearing loss
multiple diagnoses
non-syndromic hearing loss
<i>ACTG1</i>
<i>MYH9</i>
Online Access:https://www.mdpi.com/2075-4418/11/9/1636

Internet

https://www.mdpi.com/2075-4418/11/9/1636

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