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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Ophthalmic Genet
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: 2020
נושאים:
Article
גישה מקוונת: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
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!

פריטים דומים