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Thanatophoric dysplasia: prevalence, clinical characteristics, and molecular findings in a public hospital from Western Mexico.

Gaceta medica de Mexico - 1 Jan 2025

Cruz-Cruz Jessica P, Robles-Espinoza Kiabeth, Magaña-Torres María T, Peña-Padilla Christian, Bustos-Rodríguez Felipe J, Barrios-Prieto Ernesto, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Corona-Rivera Jorge R

Abstract excerpt

BACKGROUND: Thanatophoric dysplasia (TD) is a lethal FGFR3 chondrodysplasia characterized by micromelia and bowed femurs (TD1), or straight femurs and cloverleaf skull (TD2). OBJECTIVE: To determine the prevalence and clinical and molecular characteristics of patients with TD in a public hospital in Western Mexico. MATERIALS AND METHODS: Observational, retrospective and descriptive study. Ten live births 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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Identifiers

PMID: 42547059
DOI: 10.24875/GMM.M26001074

Genes

FGFR3

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