Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity-Reference-Cited by-同舟云学术

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

Published:2013 Issue:1 Volume:8 Page:36
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Hadj-Rabia Smail,Callewaert Bert L,Bourrat Emmanuelle,Kempers Marlies,Plomp Astrid S,Layet Valerie,Bartholdi Deborah,Renard Marjolijn,Backer Julie De,Malfait Fransiska,Vanakker Olivier M,Coucke Paul J,De Paepe Anne M,Bodemer Christine

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference26 articles.

1. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

2. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

3. New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of fiveELNmutations

4. A Novel Elastin Gene Mutation Resulting in an Autosomal Dominant Form of Cutis Laxa

5. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

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1. The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene;2024-02-28

2. Genetic Disorders of Collagen, Elastin and Dermal Matrix;Rook's Textbook of Dermatology;2024-02-20

3. In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population;Egyptian Journal of Medical Human Genetics;2024-01-23

4. Genetics of Cutis Laxa;Encyclopedia of Life Sciences;2023-06-08

5. Supravalvular aortic stenosis with bicuspid aortic valve in a patient with cutis laxa syndrome;QJM: An International Journal of Medicine;2022-12-26