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Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene

Archive ouverte | Frints, Suzanna G. M. | CCSD

We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, an...

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Archive ouverte | Freude, Kristine | CCSD

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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Archive ouverte | Kalscheuer, Vera | CCSD

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