Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Madeline Q.R. Lopour"'
Autor:
Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 30, Iss , Pp 101825- (2023)
Purpose: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2. Observations: A healthy fath
Externí odkaz:
https://doaj.org/article/51567a3b645d46b79f683f7b6a11a12f
Autor:
Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 29, Iss , Pp 101745- (2023)
Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous path
Externí odkaz:
https://doaj.org/article/b128732b228c4ff098da2573bce87b65