Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis

Heterozygous mutations in the SHOX gene or in the upstream and downstream enhancer elements are associated with 2–22% of cases of idiopathic short stature (OMIM #300582) and with 60% of cases of Leri–Weill dyschondrosteosis (OMIM #127300) with which female subjects are generally more severely affect...

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Principais autores:	Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2018-04-01
coleção:	Frontiers in Endocrinology
Assuntos:	short stature Leri–Weill dyschondrosteosis novel missense mutation SHOX pediatric endocrinology
Acesso em linha:	http://journal.frontiersin.org/article/10.3389/fendo.2018.00163/full
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