Article
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
European journal of human genetics : EJHG - 1 Nov 2011
Abou Jamra R, Wohlfart Sigrun, Zweier Markus, Uebe Steffen, Priebe Lutz, Ekici Arif, Giesebrecht Susanne, Abboud Ahmad, Al Khateeb Mohammed Ayman, Fakher Mahmoud, Hamdan Saber, Ismael Amina, Muhammad Safia, Nöthen Markus M, Schumacher Johannes, Reis André
Abstract excerpt
Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have been identified, and further 24 linked-ARID loci have been reported, as well as others with suggestive linkage. To discover novel genes causing NS-ARID, we undertook genome-wide homozygosity mapping in 64 consanguineous multiplex...
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