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Article

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: II. Neuropsychological and behavioral data.

American journal of medical genetics - 1 Jan 2000

Cianchetti C, Filippi G, Sannio-Fancello G, Fratta A L, Marrosu M G, Dagna-Bricarelli F, Siniscalco M

Abstract excerpt

We describe the neuropsychological and behavioral profiles of 48 critical members of a previously reported Sardinian pedigree [Filippi et al., 1991], in which the fully manifested Martin-Bell syndrome (MBS), observed among males of the latest generations, is clearly the result of step-wise mutational events occurred repeatedly along the X-chromosome pathway linking all of them to a common ancestress, who must...

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PMID: 1605176
DOI: 10.1002/ajmg.1320430115

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