A patient with albinism and retinitis pigmentosa, a case report-Reference-Cited by-同舟云学术

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A patient with albinism and retinitis pigmentosa, a case report

Published:2024-06 Issue: Volume:34 Page:102068
ISSN:2451-9936
Container-title:American Journal of Ophthalmology Case Reports
language:en
Short-container-title:American Journal of Ophthalmology Case Reports

Author:

Georgiou Michalis^ORCID,Hashem Shaima Awadh,Michaelides Michel,Chacko Joseph G.,Uwaydat Sami H.^ORCID

Publisher

Elsevier BV

Reference17 articles.

1. The phenotypic spectrum of albinism;Kruijt;Ophthalmology,2018

2. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion;Abou Tayoun;Hum Mutat,2018

3. Oculocutaneous albinism;Grønskov;Orphanet J Rare Dis,2007

4. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B);Norman;Sci Rep,2017

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