Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

doi:10.1210/jc.2011-2938

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Article

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

The Journal of clinical endocrinology and metabolism - 1 Apr 2012

Raivio Taneli, Avbelj Magdalena, McCabe Mark J, Romero Christopher J, Dwyer Andrew A, Tommiska Johanna, Sykiotis Gerasimos P, Gregory Louise C, Diaczok Daniel, Tziaferi Vaitsa, Elting Mariet W, Padidela Raja, Plummer Lacey, Martin Cecilia, Feng Bihua, Zhang Chengkang, Zhou Qun-Yong, Chen Huaibin, Mohammadi Moosa, Quinton Richard, Sidis Yisrael, Radovick Sally, Dattani Mehul T, Pitteloud Nelly

Abstract excerpt

CONTEXT: Kallmann syndrome (KS), combined pituitary hormone deficiency (CPHD), and septo-optic dysplasia (SOD) all result from development defects of the anterior midline in the human forebrain. OBJECTIVE: The objective of the study was to investigate whether KS, CPHD, and SOD have shared genetic origins. DESIGN AND PARTICIPANTS: A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated...

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Identifiers

PMID: 22319038
DOI: 10.1210/jc.2011-2938
PMCID: PMC3319178

Genes

FGF8
FGFR1
PROKR2
PROK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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