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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5463295

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

About this item

Full title

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

Publisher

Turkey: Galenos Yayinevi Tic. Ltd

Journal title

Journal of clinical research in pediatric endocrinology, 2017-06, Vol.9 (2), p.95-100

Language

English

Formats

Publication information

Publisher

Turkey: Galenos Yayinevi Tic. Ltd

More information

Scope and Contents

Contents

The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1...

Alternative Titles

Full title

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5463295

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5463295

Other Identifiers

ISSN

1308-5727

E-ISSN

1308-5735

DOI

10.4274/jcrpe.3908

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