MON-257 Axenfeld Rieger Syndrome: An Uncommon Cause of Growth Hormone Deficiency

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder presenting with abnormal eye development, which leads to glaucoma related blindness in 50% of individuals. Associated mutations affect the transcription factors pituitary homeobox 2 gene (PITX2) and forkhead box C1 gene (FOXC1). Three...

詳細記述

保存先:
書誌詳細
出版年:J Endocr Soc
主要な著者: Santini, Alberto Javier Grana, Canales Ramos, Nicolle M, Burgos Ortega, Nydia I, Torres, Wilnelia Medina, Castellano, Janet Colón, Gonzalez-Rodriguez, Loida Alejandra, Alvarado, Milliette, Ramirez, Margarita
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
Neuroendocrinology and Pituitary
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208997/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1346
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