Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589036 | European Journal of Medical Genetics | 2016 | 12 Pages |
Abstract
The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability. We further delineate the phenotype associated with the p.Ala140Val mutation, illustrating a variable expressivity even within a given family, and we compare our patients with previous reported cases in the literature.
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Authors
Sophie Lambert, Isabelle Maystadt, Sébastien Boulanger, Pascal Vrielynck, Anne Destrée, Damien Lederer, Stéphanie Moortgat,