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Article

Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.

BMC medical genomics - 19 Apr 2023

Chen Shujun, Dong Hongmei, Luo Yong, Zhang Yingpin, Li Pan

Abstract excerpt

BACKGROUND: Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000-30,000 newborns, which is an autosomal dominant inheritance disease. Despite similar imaging features, the homozygous achondroplasia is absolutely lethal due to thoracic stenosis, whereas heterozygous achondroplasia does not lead to fetal death. CASE PRESENTATION: A...

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Identifiers

PMID: 37076826
DOI: 10.1186/s12920-023-01517-8
PMCID: PMC10116793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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