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The De Barsy syndrome

Published:2004-08-25 Issue:9 Volume:31 Page:616-624
ISSN:0303-6987
Container-title:Journal of Cutaneous Pathology
language:en
Short-container-title:

Author:

Guerra Deanna,Fornieri Claudio,Bacchelli Barbara,Lugli Licia,Torelli Paola,Balli Fiorella,Ferrari Paola

Publisher

Wiley

Subject

Dermatology,Histology,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.0303-6987.2004.00241.x/fullpdf

Reference31 articles.

1. Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene;Urban;Hum Genet,2001

2. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders;Dietz;Hum Mol Genet,1995

3. Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice;Saito;Mol Immunol,1999

4. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype;Gupta;Hum Mutat,2002

5. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum;Le Saux;Nat Genet,2000

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. De Barsy Syndrome: A Case Report of a Rare Genetic Disorder;Cureus;2023-01-02

2. Anaesthesia recommendations for De Barsy syndrome;ANASTH INTENSIVMED;2021

3. Clinical implications of de Barsy syndrome;Pediatric Anesthesia;2017-11-17

4. De Barsy Syndrome: Orthopedic Case report and Literature Review;MOJ Orthopedics & Rheumatology;2017-03-21

5. Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1;Journal of Human Genetics;2017-02-23

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