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...
Main Authors: | Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2018-04-01
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Series: | Frontiers in Endocrinology |
Subjects: | |
Online Access: | http://journal.frontiersin.org/article/10.3389/fendo.2018.00163/full |
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