Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Here, we...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Shahzad, Mohsin, Yousaf, Sairah, Waryah, Yar M., Gul, Hadia, Kausar, Tasleem, Tariq, Nabeela, Mahmood, Umair, Ali, Muhammad, Khan, Muzammil A., Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2017
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339803/
https://ncbi.nlm.nih.gov/pubmed/28266639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44185
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires