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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Endocrinol (Lausanne)
Egile Nagusiak: Lucchetti, Laura, Prontera, Paolo, Mencarelli, Amedea, Sallicandro, Ester, Mencarelli, Annalisa, Cofini, Marta, Leonardi, Alberto, Stangoni, Gabriela, Penta, Laura, Esposito, Susanna
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2018
Gaiak:
Endocrinology
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5902492/
https://ncbi.nlm.nih.gov/pubmed/29692759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00163
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