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Article

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.

Orphanet journal of rare diseases - 17 Jun 2011

Laitinen Eeva-Maria, Vaaralahti Kirsi, Tommiska Johanna, Eklund Elina, Tervaniemi Mari, Valanne Leena, Raivio Taneli

Abstract excerpt

BACKGROUND: Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a mutation in one of the identified KS genes has only been found in ~30% of the patients. METHODS: Herein, we investigated epidemiological, clinical, and genetic features of KS in Finland. RESULTS: The...

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Identifiers

PMID: 21682876
DOI: 10.1186/1750-1172-6-41
PMCID: PMC3143089

Genes

CHD7
FGFR1
FGF8
PROK2
PROKR2

Provenance

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