Article
Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.
American journal of medical genetics. Part A - 1 Mar 2010
van den Berg Linda, de Waal Henriette Delemarre-van, Han Joan C, Ylstra Bauke, Eijk Paul, Nesterova Maria, Heutink Peter, Stratakis Constantine A
Abstract excerpt
A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, attention deficit hyperactivity disorder, dysmorphic facies, and contractions of the small joints. In this article, we de...
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