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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Detalles Bibliográficos
Autores principales: Sheereen, Atia, Alaamery, Manal, Bawazeer, Shahad, Al Yafee, Yusra, Massadeh, Salam, Eyaid, Wafaa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502306/
https://www.ncbi.nlm.nih.gov/pubmed/28143899
http://dx.doi.org/10.1136/jmedgenet-2016-104117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502306/
https://www.ncbi.nlm.nih.gov/pubmed/28143899
http://dx.doi.org/10.1136/jmedgenet-2016-104117

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