Condition: Congenital contractural arachnodactyly


rs1085307066 in FBN2 gene and Congenital contractural arachnodactyly PMID 11285249 2001 Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.

PMID 11470817 2001 Regulation of limb patterning by extracellular microfibrils.

PMID 11754102 2002 Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

PMID 27196565 2016 Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

PMID 16677079 2006 Fibrillin-1 misfolding and disease.

PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.

PMID 7493032 1995 Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

PMID 20799338 2010 Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

PMID 19006240 2009 Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

PMID 22237449 2012 Evaluation of the adolescent or adult with some features of Marfan syndrome.

PMID 18767143 2009 The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

PMID 25834781 2015 A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

PMID 9714438 1998 Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

PMID 10797416 2000 Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

PMID 9737771 1998 A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.

PMID 3495735 1987 The solution structure of human epidermal growth factor.

PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

PMID 8900230 1996 Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.