Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation

(2012) Byung Yoon Choi et al.   HUMAN MUTATION

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

(2012) Bert Callewaert et al.   HUMAN MUTATION

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

(2011) Bert Callewaert et al.   HUMAN MUTATION

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

(2010) Marjolijn Renard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The revised Ghent nosology for the Marfan syndrome

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

Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

(2009) Zsolt Urban et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Familial Mutation Renders Atrial Natriuretic Peptide Resistant to Proteolytic Degradation

(2009) Deborah M. Dickey et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

(2009) Hala Mégarbané et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene

(2008) Luitgard M. Graul-Neumann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

(2008) Barbara R. Pober et al.   JOURNAL OF CLINICAL INVESTIGATION