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Article

New insights in congenital bowing of the femora.

Clinical genetics - 1 Sept 2004

Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M

Abstract excerpt

The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stüve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecular bases.

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15324311
DOI: 10.1111/j.0009-9163.2004.00307.x

Genes

LIFR
SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15324311-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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