A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
Conclusions
These findings thus contribute to a growing list of ID disorders caused by CRBN mutations, broaden the spectrum of phenotypes attributable to ARNS-ID and provide new insight into genotype–phenotype correlations between CRBN mutations and the aetiology of ARNS-ID.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Sheereen, A., Alaamery, M., Bawazeer, S., Al Yafee, Y., Massadeh, S., Eyaid, W. Tags: Open access Genotype-phenotype correlations Source Type: research