Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II

OBJECTIVES: Waardenburg syndrome is a rare genetic disorder. It is characterized by sensorineural hearing impairment and pigment defects of the skin, hair and iris. In some cases abnormalities in the tissues derived from neural crest have also been reported. Mutations in several genes have been repo...

Descripción completa

Detalles Bibliográficos
Autores principales: Albarry, Maan Abdullah, Alreheli, Ahdab Qasem, Albalawi, Alia M., Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950962/
https://www.ncbi.nlm.nih.gov/pubmed/31920441
http://dx.doi.org/10.1016/j.sjopt.2019.09.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950962/
https://www.ncbi.nlm.nih.gov/pubmed/31920441
http://dx.doi.org/10.1016/j.sjopt.2019.09.004

Ejemplares similares