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Article

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.

American journal of medical genetics. Part A - 1 Oct 2011

Hatzaki Angeliki, Sifakis Stavros, Apostolopoulou Despina, Bouzarelou Dimitra, Konstantinidou Anastasia, Kappou Dimitra, Sideris Apostolos, Tzortzis Emmanouil, Athanassiadis Apostolos, Florentin Lina, Theodoropoulos Perikles, Makatsoris Constantinos, Karadimas Charalambos, Velissariou Voula

Abstract excerpt

Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal diagnosis of FGFR3 related skeletal dysplasias are not rare;...

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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 3

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Source

Identifiers

PMID: 21910223
DOI: 10.1002/ajmg.a.34189

Genes

FGFR3

Provenance

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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