Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study a...

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Detalles Bibliográficos
Autores principales: Tesolin, Paola, Fiorino, Sofia, Lenarduzzi, Stefania, Rubinato, Elisa, Cattaruzzi, Elisabetta, Ammar, Lydie, Castro, Veronica, Orzan, Eva, Granata, Claudio, Dell’Orco, Daniele, Morgan, Anna, Girotto, Giorgia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535891/
https://www.ncbi.nlm.nih.gov/pubmed/34680964
http://dx.doi.org/10.3390/genes12101569

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535891/
https://www.ncbi.nlm.nih.gov/pubmed/34680964
http://dx.doi.org/10.3390/genes12101569

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