Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment

Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment

Introduction: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availabilit...

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Main Authors: Nelmar Valentina Ortiz-Cabrera, Teresa Gavela-Pérez, Francisco Javier Mejorado-Molano, Jessica Mire Santillán-Coello, José Miguel Villacampa-Aubá, María José Trujillo-Tiebas, Leandro Soriano-Guillén
Format: Article
Language:Spanish
Published: Elsevier 2022-10-01
Series:Anales de Pediatría (English Edition)
Subjects:
Hipogonadismo hipogonadotropo
Síndrome de Kallmann
Secuenciación del exoma clínico
Retraso puberal
Online Access:http://www.sciencedirect.com/science/article/pii/S2341287921001113

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http://www.sciencedirect.com/science/article/pii/S2341287921001113

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