Article ID Journal Published Year Pages File Type
5589036 European Journal of Medical Genetics 2016 12 Pages PDF
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.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
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