Article
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics - 1 Aug 1998
Bienvenu T, des Portes V, Saint Martin A, McDonell N, Billuart P, Carrié A, Vinet M C, Couvert P, Toniolo D, Ropers H H, Moraine C, van Bokhoven H, Fryns J P, Kahn A, Beldjord C, Chelly J
Abstract excerpt
Non-specific X-linked mental retardation (MRX) is a very common disorder which affects approximately 1 in 600 males. Despite this high frequency, little is known about the molecular defects underlying this disorder, mainly because of the clinical and genetic heterogeneity which is evident from li...
Topics
- Female
- GTP Phosphohydrolases
- Genes, Dominant
- Guanosine Diphosphate
- Humans
- Intellectual Disability
- Male
- Mutation
- Pedigree