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Article

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.

American journal of medical genetics. Part A - 1 Jun 2016

Lindy Amanda S, Basehore Monica J, Munisha Mumingjiang, Williams Aimee Leanne, Friez Michael J, Writzl Karin, Willems Patrick, Dougan Scott T

Abstract excerpt

Thanatophoric dysplasia is a type of short-limbed neonatal dwarfism that is usually lethal in the perinatal period. It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies. These malformations result from autosomal dominant mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. In this report, we describe a novel FGFR3...

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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: 27028100
DOI: 10.1002/ajmg.a.37609

Genes

FGFR3

Variants

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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Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.PMID 27028100Read ↗

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