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

• Autori principali: Nelmar Valentina Ortiz-Cabrera (Autore), Teresa Gavela-Pérez (Autore), Francisco Javier Mejorado-Molano (Autore), Jessica Mire Santillán-Coello (Autore), José Miguel Villacampa-Aubá (Autore), María José Trujillo-Tiebas (Autore), Leandro Soriano-Guillén (Autore)
• Natura: Libro
• Pubblicazione: Elsevier, 2022-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...