Article
Genetic heterogeneity in Pakistani microcephaly families revisited.
Clinical genetics - 1 Jul 2017
Ahmad I, Baig S M, Abdulkareem A R, Hussain M S, Sur I, Toliat M R, Nürnberg G, Dalibor N, Moawia A, Waseem S S, Asif M, Nagra H, Sher M, Khan M M A, Hassan I, Rehman S Ur, Thiele H, Altmüller J, Noegel A A, Nürnberg P
Abstract excerpt
Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic disorder characterized by reduced head circumference, low cognitive prowess and, in general, architecturally normal brains. As many as 14 different loci have already been mapped. We recruited 35 MCPH families in Pakistan and could identify the genetic cause of the disease in 31 of them. Using homozygosity mapping complemented with...
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