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Are Consanguineous Marriages to Blame for Usher Syndrome Type 1, a Rare Disease in Pakistan?
Usher syndrome type I is a rare genetic autosomal recessive disease caused by mutations in specific genes that provide instructions for making proteins involved in normal hearing, vision, and balance. It is characterized by hearing impairment due to the inability of auditory nerves to send sensory i...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682543/ https://www.ncbi.nlm.nih.gov/pubmed/33240713 http://dx.doi.org/10.7759/cureus.11117 |