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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Detalles Bibliográficos
Autores principales: Cenni, Camille, Mansard, Luke, Blanchet, Catherine, Baux, David, Vaché, Christel, Baudoin, Corinne, Moclyn, Mélodie, Faugère, Valérie, Mondain, Michel, Jeziorski, Eric, Roux, Anne-Françoise, Willems, Marjolaine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465614/
https://www.ncbi.nlm.nih.gov/pubmed/34573976
http://dx.doi.org/10.3390/diagnostics11091636

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465614/
https://www.ncbi.nlm.nih.gov/pubmed/34573976
http://dx.doi.org/10.3390/diagnostics11091636

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