Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

doi:10.1038/ng0395-321

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Article

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

Nature genetics - 1 Mar 1995

Tavormina P L, Shiang R, Thompson L M, Zhu Y Z, Wilkin D J, Lachman R S, Wilcox W R, Rimoin D L, Cohn D H, Wasmuth J J

Abstract excerpt

Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features similar to those seen in homozygous achondroplasia. Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD. A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of...

Topics

Alleles
Amino Acid Sequence
Base Sequence
DNA
DNA Primers
Female
Femur
Humans
Infant, Newborn
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Point Mutation

Polymerase Chain Reaction

Protein-Tyrosine Kinases

Radiography

Receptor, Fibroblast Growth Factor, Type 3

Receptors, Fibroblast Growth Factor

Source

Open in PubMed

Identifiers

PMID: 7773297
DOI: 10.1038/ng0395-321

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7773297-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.PMID 7773297Read ↗

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