XLMR genes: Update 1994
โ Scribed by Neri, Giovanni ;Chiurazzi, Pietro ;Arena, J. Fernando ;Lubs, Herbert A.
- Book ID
- 102702370
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 760 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
We provide a comprehensive list of all known forms of X-linked mental retardation. It comprises 127 entries, subdivided into 5 categories (syndromes, dominant disorders, metabolic disorders, neuromuscular disorders, and nonspecific mental retardation). Map location of 69 putative loci demonstrates several overlaps, which will only be resolved by more refined mapping or cloning of the respective genes.
The ultimate goal of identifying all the genes on the X chromosome whose mutations cause mental retardation will require a concerted effort between clinical and molecular investigators.
๐ SIMILAR VOLUMES
Since the Seventh Fragile X and XLMR Mental Retardation (XLMR) Workshop in 1995, the genes for Coffin-Lowry, Mohr-Tranebjaerg, and Opitz G/BBB syndromes have been cloned. Jensen syndrome has been found to be allelic to Mohr-Tranebjaerg. Twenty new XLMR syndromes and metabolic or neuromuscular disord