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Article

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.

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

Ekinci Sadiye, Ülger Yasemin, Acar Mustafa Oğuz, Ceran Ayşegül, Aycan Zehra, Fitoz Ömer Suat, Ilgın Ruhi Hatice

Abstract excerpt

OBJECTIVES: Hypochondroplasia (HCH) is characterized by disproportionate short stature and regarded as a milder form of achondroplasia (ACH), which is another skeletal dysplasia, both caused by variants in fibroblast growth factor receptor 3 (FGFR3) gene. HCH diagnosis is based on the clinical features and skeletal survey findings. The most common FGFR3 variant in HCH affects the codon 540, leading to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35438268
DOI: 10.1515/jpem-2021-0773

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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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