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Anales de Pediatría
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. We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assesseddoi:10.1016/j.anpedi.2021.01.020 pmid:34120870 fatcat:7raauqlwsvhnzjtwcok4uptbva