KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
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Author / Creator
Xu, Cheng , Messina, Andrea , Somm, Emmanuel , Miraoui, Hichem , Kinnunen, Tarja , Acierno, James , Niederländer, Nicolas J , Bouilly, Justine , Dwyer, Andrew A , Sidis, Yisrael , Cassatella, Daniele , Sykiotis, Gerasimos P , Quinton, Richard , De Geyter, Christian , Dirlewanger, Mirjam , Schwitzgebel, Valérie , Cole, Trevor R , Toogood, Andrew A , Kirk, Jeremy MW , Plummer, Lacey , Albrecht, Urs , Crowley, William F , Mohammadi, Moosa , Tena‐Sempere, Manuel , Prevot, Vincent and Pitteloud, Nelly
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin‐releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (
FGFR1
) is the most frequently mutated gene in CHH and is implicated in GnRH neuron development and maintenance. We note that a CHH
FGFR1...
Alternative Titles
Full title
KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
Authors, Artists and Contributors
Author / Creator
Messina, Andrea
Somm, Emmanuel
Miraoui, Hichem
Kinnunen, Tarja
Acierno, James
Niederländer, Nicolas J
Bouilly, Justine
Dwyer, Andrew A
Sidis, Yisrael
Cassatella, Daniele
Sykiotis, Gerasimos P
Quinton, Richard
De Geyter, Christian
Dirlewanger, Mirjam
Schwitzgebel, Valérie
Cole, Trevor R
Toogood, Andrew A
Kirk, Jeremy MW
Plummer, Lacey
Albrecht, Urs
Crowley, William F
Mohammadi, Moosa
Tena‐Sempere, Manuel
Prevot, Vincent
Pitteloud, Nelly
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_7a254787799e445f8c77305b0142a29e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7a254787799e445f8c77305b0142a29e
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201607376
