Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature-Reference-Cited by-同舟云学术

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

Published:2008-11-12 Issue:3 Volume:30 Page:334-341
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

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.

Funder

Fund for Scientific Research, Flanders

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly;Babcock;Hum Genet,1998

2. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly;Belleh;Am J Med Genet,2000

3. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice;Chaudhry;Hum Mol Genet,2001

4. A severe form of congenital contractural arachnodactyly in two newborn infants;Currarino;Am J Med Genet,1986

5. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991

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