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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| 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 |