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Article

Thanatophoric dysplasia caused by double missense FGFR3 mutations.

American journal of medical genetics. Part A - 1 Jun 2009

Pannier Stéphanie, Martinovic Jelena, Heuertz Solange, Delezoide Anne-Lise, Munnich Arnold, Schibler Laurent, Serre Valérie, Legeai-Mallet Laurence

Abstract excerpt

Thanatophoric dysplasia is a lethal chondrodysplasia caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Mutations have been identified in several domains of the receptor. The most frequent mutations (p.R248C, p.S249C, p.Y373C) create a cysteine residue within the extracellular domain, whereas the others eliminate the termination codon (p.X807R, p.X807C, p.X807G, p.X807S,...

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Source

Identifiers

PMID: 19449430
DOI: 10.1002/ajmg.a.32880

Genes

FGFR3

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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