Article
Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.
Anales de pediatria - 1 Oct 2022
Ortiz-Cabrera Nelmar Valentina, Gavela-Pérez Teresa, Mejorado-Molano Francisco Javier, Santillán-Coello Jessica Mire, Villacampa-Aubá José Miguel, Trujillo-Tiebas María José, Soriano-Guillén Leandro
Abstract excerpt
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 availability of next generation sequencing (NGS) has increased the diagnostic yield. METHODS: We analysed the diagnostic yield...
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