Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

Callewaert, Bert L; Loeys, Bart L; Ficcadenti, Anna; Vermeer, Sascha; Landgren, Magnus; Kroes, Hester Y; Yaron, Yuval; Pope, Michael; Foulds, Nicola; Boute, Odile; Galán, Francisco; Kingston, Helen; Van der Aa, Nathalie; Salcedo, Iratxe; Swinkels, Marielle E; Wallgren-Pettersson, Carina; Gabrielli, Orazio; De Backer, Julie; Coucke, Paul J; De Paepe, Anne M

Callewaert, Bert L; Loeys, Bart L; Ficcadenti, Anna; Vermeer, Sascha; Landgren, Magnus; Kroes, Hester Y; Yaron, Yuval; Pope, Michael; Foulds, Nicola; Boute, Odile; Galán, Francisco; Kingston, Helen; Van der Aa, Nathalie; Salcedo, Iratxe; Swinkels, Marielle E; Wallgren-Pettersson, Carina; Gabrielli, Orazio; De Backer, Julie; Coucke, Paul J; De Paepe, Anne M.

Affiliation

Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Belgium.

Hum Mutat ; 30(3): 334-41, 2009 Mar.

Article in En | MEDLINE | ID: mdl-19006240

Subject(s)

Abnormalities, Multiple/genetics; Arachnodactyly/pathology; Contracture/pathology; Microfilament Proteins/genetics; Mutation; Abnormalities, Multiple/pathology; Child; Contracture/congenital; DNA Mutational Analysis; Female; Fibrillin-2; Fibrillins; Humans; Male; Pedigree; Syndrome

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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Contracture / Arachnodactyly / Microfilament Proteins / Mutation Limits: Child / Female / Humans / Male Language: En Year: 2009 Type: Article

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