Light and Electron Microscopy of Classical Ehlers–Danlos Syndrome-Reference-Cited by-同舟云学术

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Light and Electron Microscopy of Classical Ehlers–Danlos Syndrome

Published:2013-02 Issue:1 Volume:35 Page:102-105
ISSN:0193-1091
Container-title:The American Journal of Dermatopathology
language:en
Short-container-title:

Author:

de Almeida Hiram L.,Bicca Eduardo,Rocha Nara M.,de Castro Luis A.S.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Dermatology,General Medicine,Pathology and Forensic Medicine

Reference13 articles.

1. . Ehlers-Danlos syndrome20 year experience with diagnosis and classification at the university skin clinic of Heidelberg in German.;Proske;J Dtsch Dermatol Ges,2006

2. . Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).;Beighton;Am J Med Genet,1998

3. . An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.;Nicholls;J Med Genet,1996

4. . COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.;Wenstrup;Am J Med Genet,2000

5. . Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.;Giunta;Am J Med Genet,2002

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2. The role of cutaneous manifestations in the diagnosis of the Ehlers‐Danlos syndromes;Skin Health and Disease;2022-07-15

3. Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?;International Journal of Molecular Sciences;2021-09-20

4. Erkenntnisse zu und aus Krankheiten. Eukaryotengifte als Impulsgeber für die Zellbiologie;Abenteuer Zellbiologie - Streifzüge durch die Geschichte;2021

5. Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1;BMC Pediatrics;2020-10-27

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