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Article

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.

Endocrine journal - 1 Jan 2013

Fukami Maki, Iso Manami, Sato Naoko, Igarashi Maki, Seo Misuzu, Kazukawa Itsuro, Kinoshita Eiichi, Dateki Sumito, Ogata Tsutomu

Abstract excerpt

Combined pituitary hormone deficiency (CPHD), isolated hypogonadotropic hypogonadism (IHH), Kallmann syndrome (KS), and septo-optic dysplasia (SOD) are genetically related conditions caused by abnormal development of the anterior midline in the forebrain. Although mutations in the fibroblast grow...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23657145
DOI: 10.1507/endocrj.ej13-0023

Genes

FGFR1
IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23657145-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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