Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation inFBLN4-Reference-Cited by-同舟云学术

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Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation inFBLN4

Published:2013-03-26 Issue:5 Volume:161 Page:1148-1153
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sawyer Sarah L.¹,Dicke Frank²,Kirton Adam³,Rajapkse Thilinie³,Rebeyka Ivan M.⁴,McInnes Brenda⁵,Parboosingh Jillian S.,Bernier Francois P.

Affiliation:

1. Department of Medical Genetics; University of Ottawa; Ottawa, Ontario; Canada

2. Division of Cardiology, Department of Pediatrics; University of Calgary; Alberta; Canada

3. Division of Neurology, Department of Pediatrics; University of Calgary; Alberta; Canada

4. Departments of Surgery & Pediatrics; University of Alberta; Edmonton; Canada

5. Department of Medical Genetics; University of Calgary; Calgary, Alberta; Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome;Brooke;N Engl J Med,2008

3. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa;Dasouki;Am J Med Genet Part A,2007

4. Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation;Erickson;Pediatr Dev Pathol,2012

5. Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice;Holm;Science,2011

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1. Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician;Journal of Pediatric Surgery;2021-12

2. Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management;Frontiers in Cardiovascular Medicine;2021-11-24

3. Molecular dynamics simulations on human fibulin-4 mutants D203A and E126K reveal conformational changes in EGF domains potentially responsible for enhanced protease lability and impaired extracellular matrix assembly;Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics;2019-09

4. Roles of short fibulins, a family of matricellular proteins, in lung matrix assembly and disease;Matrix Biology;2018-11

5. Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency;The Annals of Thoracic Surgery;2018-02

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