Is it Usher Syndrome? Collaborative Diagnosis and Molecular Genetics of Patients with Visual Impairment and Hearing Loss

BACKGROUND: Usher syndrome is the most common hereditary syndrome combining deafness and blindness (1, 2). In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were also at least 70 other etiologies of deaf-blindness...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Ophthalmic Genet
Główni autorzy: Stiff, Heather A., Sloan-Heggen, Christina M., Ko, Ashley, Pfeifer, Wanda L., Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Booth, Kevin T., Wang, Donghong, Weaver, Amy E., Azaiez, Hela, Kamholz, John, Smith, Richard J.H., Drack, Arlene V.
Format: Artigo
Język:Inglês
Wydane: 2020
Hasła przedmiotowe:
Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7489297/
https://ncbi.nlm.nih.gov/pubmed/32281467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2020.1747088
Etykiety: Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!

Podobne zapisy