Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Maini, Ilenia, Ivanovski, Ivan, Iodice, Alessandro, Rosato, Simonetta, Pollazzon, Marzia, Mussini, Manuela, Belligni, Elga F., Coutton, Charles, Marinelli, Maria, Barbieri, Veronica, Napoli, Manuela, Pascarella, Rosario, Sartori, Chiara, Madia, Francesca, Fusco, Carlo, Franchi, Fabrizia, Street, Maria E., Garavelli, Livia
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2016
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5131335/
https://ncbi.nlm.nih.gov/pubmed/27920637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000450718
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