Article
Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
Obesity (Silver Spring, Md.) - 1 Dec 2014
Montagne Louise, Raimondo Anne, Delobel Bruno, Duban-Bedu Bénédicte, Noblet Fanny Stutzmann, Dechaume Aurélie, Bersten David C, Meyre David, Whitelaw Murray L, Froguel Philippe, Bonnefond Amélie
Abstract excerpt
OBJECTIVE: Several deletions of chromosome 6q, including SIM1, were reported in obese patients with developmental delay. Furthermore, rare loss-of-function SIM1 mutations were shown to contribute to severe obesity, yet the role of these mutations in developmental delay remained unclear. Here, SIM1 in children with neurodevelopmental abnormalities was screened and the functional effect of the identified mutations...
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