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Article

A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism.

International journal of molecular sciences - 17 Apr 2022

Fadiga Lúcia, Lavrador Mariana, Vicente Nuno, Barros Luísa, Gonçalves Catarina I, Al-Naama Asma, Saraiva Luis R, Lemos Manuel C

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive endocrine disorder characterized by complete or partial failure of pubertal development and infertility due to deficiency of the gonadotropin-releasing hormone (GnRH). CHH has a significant clinical heterogeneity and can be caused by mutations in over 30 genes. The aim of this study was to investigate the genetic defect in two siblings with...

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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: 35457241
DOI: 10.3390/ijms23084423
PMCID: PMC9026826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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