The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are clinically and genetically heterogeneous disorders caused by a deficiency of gonadotrophin-releasing hormone (GnRH). Mutations in three genes—KAL1, GNRHR and FGFR1—account for 15–20% of all causes of IHH/KS. Nearly all mut...

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Detalles Bibliográficos
Autores principales: Pedersen-White, Jennifer R., Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2434956/
https://www.ncbi.nlm.nih.gov/pubmed/18463157
http://dx.doi.org/10.1093/molehr/gan027

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