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Nonsyndromic X-linked mental retardation: where are the missing mutations?

Archive ouverte | Ropers, Hans-Hilger | CCSD

International audience. Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in ...

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...

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11

Archive ouverte | Jensen, Lars Riff | CCSD

International audience

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