Article
[X-linked mental retardation].
Medecine sciences : M/S - 1 Nov 2005
Billuart Pierre, Chelly Jamel, Gilgenkrantz Simone
Abstract excerpt
X-linked mental retardation (XLMR) affects 1.8 per thousand male births and is usually categorized as "syndromic" (MRXS) or "non-specific" (MRX) forms according to the presence or absence of specific signs in addition to the MR. Up to 60 genes have been implicated in XLMR and certain mutations can alternatively lead to MRXS or MRX. Indeed the extreme phenotypic and allelic heterogeneity of XLMR makes the...
Topics
- Carrier State
- Cell Differentiation
- Chromosomes, Human, X
- Cytoskeletal Proteins
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- GTPase-Activating Proteins
- Gene Expression Regulation, Developmental
- Homeodomain Proteins
- Humans
- Male
- X-Linked Intellectual Disability
- Models, Genetic
- Nuclear Proteins
- Phenotype
- Signal Transduction
- Transcription Factors