[Prader-Willi syndrome in 2015].

Abstract excerpt

Prader-Willi syndrome is a neurodevelopmental disorder caused by the lack of expression of imprinted genes of the chromosomal region 15q11-q12. Diagnosis can now be made in the first months of life, allowing a precise description of the natural history of the disease. Of interest, nutritional phases appear to be more complex than those initially reported, starting with a severe hypotonia with deficit of suckling...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Phenotype
• Share to Prader-Willi Syndrome
• Share to Diagnosis, Differential