Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype
Work
Year: 2001
Type: article
Abstract: Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications ... more
Source: Human Mutation
Authors Prateek Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann +9 more
Institutions The University of Texas Health Science Center at Houston, Helsinki University Hospital, University Children's Hospital Zurich, St George's Hospital, St George's, University of London +7 more
Cites: 29
Cited by: 135
Related to: 10
FWCI: 3.123
Citation percentile (by year/subfield): 96.85
Subfield: Genetics
Domain: Life Sciences
Sustainable Development Goal Good health and well-being
Open Access status: gold
APC paid (est): $2,300