Article
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Molecular psychiatry - 1 Nov 2017
Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla D L, Song Y, van Beusekom E, Khan A A, Tomas-Roca L, Rashid M, Zahoor M Y, Wissink-Lindhout W M, Basra M A R, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman J A, Gilissen C, Akram J, Kleefstra T, Assir M Z, Grozeva D, Carss K, Raymond F L, O'Connor T D, Riazuddin S A, Khan S N, Ahmed Z M, de Brouwer A P M, van Bokhoven H, Riazuddin S
Abstract excerpt
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in...
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