Article
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
PloS one - 1 Jan 2015
Davarniya Behzad, Hu Hao, Kahrizi Kimia, Musante Luciana, Fattahi Zohreh, Hosseini Masoumeh, Maqsoud Fariba, Farajollahi Reza, Wienker Thomas F, Ropers H Hilger, Najmabadi Hossein
Abstract excerpt
Cognitive impairment or intellectual disability (ID) is a widespread neurodevelopmental disorder characterized by low IQ (below 70). ID is genetically heterogeneous and is estimated to affect 1-3% of the world's population. In affected children from consanguineous families, autosomal recessive inheritance is common, and identifying the underlying genetic cause is an important issue in clinical genetics. In the...
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