Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature

Pathophysiology and Japanese clinical characteristics in Marfan syndrome

(2014) Daishi Fujita et al.   PEDIATRICS INTERNATIONAL

Marfan syndrome

(2012) Nikhita Bolar et al.   CURRENT OPINION IN PEDIATRICS

Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases

(2012) Margaret R. Davis et al.   MOLECULAR GENETICS AND METABOLISM

Dissecting the Fibrillin Microfibril: Structural Insights into Organization and Function

(2012) Sacha A. Jensen et al.   STRUCTURE

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations

(2008) Melissa Yana Frédéric et al.   HUMAN MUTATION

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

(2008) Bert L. Callewaert et al.   HUMAN MUTATION