OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.

نویسندگان

  • T Kausar
  • M A Bhatti
  • M Ali
  • R S Shaikh
  • Z M Ahmed
چکیده

To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of these loci have been identified (2). However, mutations in these four genes do not account for all cases of non-syndromic OCA. In published studies, the detection rate of mutations varies, and up to 30% of OCA

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عنوان ژورنال:
  • Clinical genetics

دوره 84 1  شماره 

صفحات  -

تاریخ انتشار 2013