X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
✍ Scribed by P. Póo-Argüelles; A. Arias; M. A. Vilaseca; A. Ribes; R. Artuch; A. Sans-Fito; A. Moreno; C. Jakobs; G. Salomons
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 192 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0141-8955
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X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. He
X-linked mental retardation (XLMR) includes distinct entities in which mental deficiency is either associated with specific abnormalities (syndromal) or not (nonsyndromal). We report on the clinical, neuropsychological, and laboratory findings and linkage analysis in one family with XLMR and isolate