Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care-Reference-Cited by-同舟云学术

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Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care

Published:2018-09-08 Issue:11 Volume:176 Page:2237-2242
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Legare Janet M.¹^ORCID,Modaff Peggy¹,Strom Samuel P.²^ORCID,Pauli Richard M.¹^ORCID,Bartlett Heather L.¹³^ORCID

Affiliation:

1. Department of Pediatrics; University of Wisconsin School of Medicine and Public Health; Madison Wisconsin

2. Fulgent Genetics; Temple City California

3. Department of Medicine; University of Wisconsin School of Medicine and Public Health; Madison Wisconsin

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40377/fullpdf

Reference26 articles.

1. Molecular Screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia;Allali;Journal of Medical Genetics,2011

2. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome;Cecchi;American Journal of Medical Genetics Part A,2013

3. Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family;Elhoury;Cardiology in the Young,2015

4. Clinical and morphological phenotype of geleophysic dysplasia;Giray;Annals of Tropical Paediatrics,2008

5. Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: A novel mechanism influencing microfibril assembly and function;Hubmacher;Cellular and Molecular Life Sciences,2011

Cited by 10 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. Geleophysic dysplasia and Weill–Marchesani syndrome: ADAMTSL2 a possible common gene;Ophthalmic Genetics;2024-07-24

2. ADAMTSL2 mutations determine the phenotypic severity in Geleophysic Dysplasia;JCI Insight;2024-02-01

3. Growth plate extracellular matrix defects and short stature in children;Annals of Pediatric Endocrinology & Metabolism;2022-12-31

4. The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2;Human Mutation;2022-04-28

5. ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms;Biomolecules;2021-12-22

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