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Article

A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 16 Dec 2020

Erbaş İbrahim Mert, Paketçi Ahu, Acar Sezer, Kotan Leman Damla, Demir Korcan, Abacı Ayhan, Böber Ece

Abstract excerpt

OBJECTIVES: Variants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary hormone deficiency (CPHD) is well established, variants in FGFR1 have been presented as a rare cause of this phenotype recently. CASE PRESENTATION: Herein, we report an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 1

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Identifiers

PMID: 32853167
DOI: 10.1515/jpem-2020-0029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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