Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations
Work
Year: 2008
Type: article
Abstract: From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients <18 years of age at the last follow-up evaluation were analyzed (32%). At the time of diagnosis, the median a... more
Source: PEDIATRICS
Authors Laurence Faivre, Alice Masurel‐Paulet, Gwenaëlle Collod‐Béroud, Bert Callewaert, Anne H. Child +24 more
Institutions Genetic Resources Center, CHU Dijon Bourgogne, Université de Montpellier, Inserm, Ghent University Hospital +13 more
Cites: 32
Cited by: 167
Related to: 10
FWCI: 6.401
Citation percentile (by year/subfield): 91.34
Subfield: Genetics
Domain: Life Sciences
Sustainable Development Goal No poverty
Open Access status: green