Article
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.
American journal of medical genetics. Part A - 1 Jul 2006
Naveed Mohammed, Al-Ali Mahmoud T, Murthy Sabita K, Al-Hajali Sarah, Al-Khaja Najib, Deutsch Samuel, Bottani Armand, Antonarakis Stylianos E, Nath Swapan K, Radhakrishna Uppala
Abstract excerpt
Ectrodactyly with aplasia of long bones syndrome is one of the most recognizable defects involving the extremities. We have studied a very large eight-generation consanguineous Arab family from the United Arab Emirates (UAE) with multiple severe limb anomalies resembling this condition (OMIM; 119100), for which the affected gene is unknown. The pedigree consists of 145 individuals including 23 affected (14...
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