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...

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Veröffentlicht in:Sci Rep
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
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Article
Online Zugang: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
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