A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family

BACKGROUND: Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human...

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Bibliographic Details
Published in:	J Med Genet
Main Authors:	Sheereen, Atia, Alaamery, Manal, Bawazeer, Shahad, Al Yafee, Yusra, Massadeh, Salam, Eyaid, Wafaa
Format:	Artigo
Language:	Inglês
Published:	BMJ Publishing Group 2017
Subjects:	Genotype-Phenotype Correlations
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC5502306/ https://ncbi.nlm.nih.gov/pubmed/28143899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104117
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A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family

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