PAX3 gene deletion detected by microarray analysis in a girl with hearing loss

Deletions of the PAX3 gene have been rarely reported in the literature. Mutations of this gene are a common cause of Waardenburg syndrome type 1 and 3. We report a 16 year old female presenting hearing loss and normal intellectual development, without major features of Waardenburg syndrome type 1, a...

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Detalles Bibliográficos
Autores principales: Drozniewska, Malgorzata, Haus, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023700/
https://www.ncbi.nlm.nih.gov/pubmed/24839464
http://dx.doi.org/10.1186/1755-8166-7-30

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023700/
https://www.ncbi.nlm.nih.gov/pubmed/24839464
http://dx.doi.org/10.1186/1755-8166-7-30

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