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Article

Mutations in FEZF1 cause Kallmann syndrome.

American journal of human genetics - 4 Sept 2014

Kotan L Damla, Hutchins B Ian, Ozkan Yusuf, Demirel Fatma, Stoner Hudson, Cheng Paul J, Esen Ihsan, Gurbuz Fatih, Bicakci Y Kenan, Mengen Eda, Yuksel Bilgin, Wray Susan, Topaloglu A Kemal

Abstract excerpt

Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity...

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Identifiers

PMID: 25192046
DOI: 10.1016/j.ajhg.2014.08.006
PMCID: PMC4157145

Genes

FEZF1

Provenance

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