Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

OBJECTIVES: Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess th...

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Detalles Bibliográficos
Autores principales: Wildhardt, Gabriele, Zirn, Birgit, Graul-Neumann, Luitgard M, Wechtenbruch, Juliane, Suckfüll, Markus, Buske, Annegret, Bohring, Axel, Kubisch, Christian, Vogt, Stefanie, Strobl-Wildemann, Gertrud, Greally, Marie, Bartsch, Oliver, Steinberger, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612789/
https://www.ncbi.nlm.nih.gov/pubmed/23512835
http://dx.doi.org/10.1136/bmjopen-2012-001917

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612789/
https://www.ncbi.nlm.nih.gov/pubmed/23512835
http://dx.doi.org/10.1136/bmjopen-2012-001917

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