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Article

Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2022

García-García Emilio, Fernández Raquel M, Navarro-Moreno Constanza, Gómez-Gila Ana L, Borrego Salud

Abstract excerpt

OBJECTIVES: Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects. CASE PRESENTATION: Here, we report a girl and her mother with KS caused by a novel mutation in the fibroblast growth factor receptor 1 gene (FGFR1). Interestingly, the daughter presented syndactyly and oligodactyly of the feet. CONCLUSIONS: The...

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Source

Identifiers

PMID: 35932482
DOI: 10.1515/jpem-2021-0730

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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