Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Isidor, B; Cormier-Daire, V; Le Merrer, M; Lefrancois, T; Hamel, A; Le Caignec, C; David, A; Jacquemont, S

Isidor, B; Cormier-Daire, V; Le Merrer, M; Lefrancois, T; Hamel, A; Le Caignec, C; David, A; Jacquemont, S.

Affiliation

Isidor B; Service de Génétique Médicale, Nantes University Hospital, Nantes, France. bertrand.isidor@chu-nantes.fr

Am J Med Genet A ; 146A(12): 1593-7, 2008 Jun 15.

Article in En | MEDLINE | ID: mdl-18470895

Subject(s)

Genes, Dominant; Hand Deformities/diagnostic imaging; Hand Deformities/genetics; Spine/abnormalities; Spine/diagnostic imaging; Synostosis/diagnostic imaging; Synostosis/genetics; Tarsal Bones/abnormalities; Tarsal Bones/diagnostic imaging; Adult; Child; Contractile Proteins/genetics; Female; Filamins; Humans; Male; Microfilament Proteins/genetics; Mutation; Pedigree; Phenotype; Radiography

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Full text: 1 Database: MEDLINE Main subject: Spine / Synostosis / Hand Deformities / Tarsal Bones / Genes, Dominant Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Year: 2008 Type: Article

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