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ODP401 A new FGFR1 mutation causing Idiopathic Hypogonadotropic Hypogonadism and Polydactyly
INTRODUCTION: Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a heterogeneous condition with unknown genetic basis in approximately 30% of patients. We describe a case with normosmic IHH and an unreported FGFR1 mutation. CASE REPORT: A 23-year-old hispanic man, with a history of polydac...
Autores principales: | Espinosa, Luis Borges, Ayala, Alejandro, Dicenso, Daniela |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625258/ http://dx.doi.org/10.1210/jendso/bvac150.1357 |
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