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Article

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

Human molecular genetics - 1 Apr 1996

Rousseau F, el Ghouzzi V, Delezoide A L, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J

Abstract excerpt

Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic cavity. In the most common subtype (TD1), femurs are curved, while in TD2, straight femurs are associated with cloverleaf skull. Mutations...

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Source

Identifiers

PMID: 8845844
DOI: 10.1093/hmg/5.4.509

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8845844-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).PMID 8845844Read ↗

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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.Semantic proximity Read ↗

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.Semantic proximity Read ↗

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