Article
A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.
Obesity research & clinical practice - 1 Jan 2000
Carvalho Laura M L, D'Angelo Carla S, Mustacchi Zan, da Silva Israel T, Krepischi Ana Cristina V, Koiffmann Celia P, Rosenberg Carla
Abstract excerpt
BACKGROUND: Pathogenic variants involving the MYT1L gene lead to an autosomal dominant form of syndromic obesity, characterized by polyphagia, intellectual disability/developmental delay, and behavioral problems, and that a characteristic facial phenotype does not seem to be recognizable. METHODS: Trio whole exome sequencing was performed in a 10-year-old Brazilian male presenting polyphagia, severe early-onset...
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