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Article

A case of thanatophoric dysplasia type 2: a novel mutation.

Journal of clinical research in pediatric endocrinology - 1 Mar 2015

Gülaşı Selvi, Atıcı Aytuğ, Çelik Yalçın

Abstract excerpt

Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD...

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Share to FGFR3 gene
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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

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Identifiers

PMID: 25800480
DOI: 10.4274/jcrpe.1703
PMCID: PMC4439897

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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