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Article

Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.

Skeletal radiology - 1 Sept 2014

Pazzaglia Ugo E, Donzelli Carla M, Izzi Claudia, Baldi Maurizia, Di Gaetano Giuseppe, Bondioni MariaPia

Abstract excerpt

OBJECTIVE: Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gene mutation and interpolation of mechanical factors on spine and long bones dysmorphism. MATERIALS AND METHODS: Long bones and spine of eight thanatophoric dysplasia and three age-matched controls without skeletal dysplasia were studied after pregnancy termination between the 18th and the 22nd week with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Prenatal Diagnosis

Share to Receptor, Fibroblast Growth Factor, Type 3

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Share to Tomography, X-Ray Computed

Source

Identifiers

PMID: 24859745
DOI: 10.1007/s00256-014-1899-1

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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