Literature DB >> 15324311

New insights in congenital bowing of the femora.

V Cormier-Daire1, D Geneviève, A Munnich, M Le Merrer.   

Abstract

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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Year:  2004        PMID： 15324311     DOI： 10.1111/j.0009-9163.2004.00307.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

Review 1.  Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy.

Authors:  Jean Pierre Salles
Journal:  Clin Biochem Rev       Date:  2020-02

2.  Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.

Authors:  Ali Al Kaissi; Monika Rumpler; Robert Csepan; Franz Grill; Klaus Klaushofer
Journal:  Cases J       Date:  2008-08-21

Review 3.  Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.

Authors:  Dawn Mikelonis; Cheryl L Jorcyk; Ken Tawara; Julia Thom Oxford
Journal:  Orphanet J Rare Dis       Date:  2014-03-12       Impact factor: 4.123
  3 in total

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