Article
Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2010
Kaul Haiba, Riazuddin S Amer, Qazi Zaheeruddin A, Nasir Idrees A, Zafar Ahmad U, Khan Shaheen N, Husnain Tayyab, Akram Javed, Hejtmancik J Fielding, Riazuddin Sheikh
Abstract excerpt
OBJECTIVE: To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. METHODS: We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide...
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