Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

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 behi...

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Publicat a:Mol Psychiatry
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5658665/
https://ncbi.nlm.nih.gov/pubmed/27457812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mp.2016.109
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