SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism

Introduction: Hypopituitarism is defined as a deficiency of one or more pituitary hormones. Pathogenic allelic variants in genes implicated in pituitary development were associated in 15% of the patients with congenital hypopituitarism (CH). To improve the molecular diagnosis we performed whole exom...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Endocr Soc
Main Authors: Kertsz, Renata, Ferreira, Nathália, Madeira, João L o m, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna, Bissegatto, Débora Delmonte, Camper, Sally, Mendonca, Berenice Bilharinho, Jorge, Alexander, Arnhold, Ivo J p, Carvalho, Luciani Renata Silveira
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2020
נושאים:
Genetics and Development (including Gene Regulation)
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207772/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1223
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