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ARX mutation c.428–451dup (24bp) in a Brazilian family with X-linked mental retardation

✍ Scribed by Raquel de Souza Gestinari-Duarte; Cíntia Barros Santos-Rebouças; Raquel Tavares Boy; Márcia Mattos Gonçalves Pimentel


Book ID
116432834
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
264 KB
Volume
49
Category
Article
ISSN
1769-7212

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Dissociation between mental retardation
✍ M. A. Voelckel; M. G. Mattei; C. N'Guyen; N. Philip; F. Birg; J. F. Mattei 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 508 KB

We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site