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Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective

Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes rec...

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Detalles Bibliográficos
Autores principales: Al Sayed, Yasmin, Howard, Sasha R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133250/
https://www.ncbi.nlm.nih.gov/pubmed/36517585
http://dx.doi.org/10.1038/s41431-022-01261-0