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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208997/ http://dx.doi.org/10.1210/jendso/bvaa046.1346 |