Article
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Scientific reports - 7 Mar 2017
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
Abstract excerpt
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 determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previously unreported...
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