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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...

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Detalles Bibliográficos
Autores principales: Espinosa, Luis Borges, Ayala, Alejandro, Dicenso, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625258/
http://dx.doi.org/10.1210/jendso/bvac150.1357