Article
Genetic analysis of consanguineous families presenting with congenital ocular defects.
Experimental eye research - 1 May 2016
Ullah Ehsan, Nadeem Saqib Muhammad Arif, Sajid Sundus, Shah Neelam, Zubair Muhammad, Khan Muzammil Ahmad, Ahmed Iftikhar, Ali Ghazanfar, Dutta Atanu Kumar, Danda Sumita, Lao Richard, Ling-Fung Tang Paul, Kwok Pui-Yan, Ansar Muhammad, Slavotinek Anne
Abstract excerpt
Anophthalmia and microphthalmia (A/M) are a group of rare developmental disorders that affect the size of the ocular globe. A/M may present as the sole clinical feature, but are also frequently found in a variety of syndromes. A/M is genetically heterogeneous and can be caused by chromosomal aberrations, copy number variations and single gene mutations. To date, A/M has been caused by mutations in at least 20...
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