A newCOL3A1mutation in Ehlers-Danlos syndrome type IV-Reference-Cited by-同舟云学术

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A newCOL3A1mutation in Ehlers-Danlos syndrome type IV

Published:2013-03 Issue:3 Volume:22 Page:231-234
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Eder Johanna¹,Laccone Franco²,Rohrbach Marianne³,Giunta Cecilia³,Aumayr Klaus⁴,Reichel Christofer¹,Trautinger Franz¹

Affiliation:

1. Department of Dermatology and Venereology; Landesklinikum St. Poelten; St. Poelten; Austria

2. Institute of Medical Genetics; Medical University of Vienna; Vienna; Austria

3. Connective Tissue Unit; Division of Metabolism; University Children's Hospital Zurich; Zurich; Switzerland

4. Clinical Institute of Pathology; Medical University of Vienna; Vienna; Austria

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/exd.12105/fullpdf

Reference19 articles.

1. Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

2. Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

3. Ehlers-Danlos syndrome type IV

4. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

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1. Diseases of the blood vessels and thrombosis;Surgery (Oxford);2024-05

2. Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review;Frontiers in Genetics;2023-12-20

3. Systematic investigation of the skin in Chst14−/− mice: A model for skin fragility in musculocontractural Ehlers–Danlos syndrome caused by CHST14 variants (mcEDS-CHST14);Glycobiology;2020-06-27

4. Melatonin promotes Cashmere goat (Capra hircus) secondary hair follicle growth: a view from integrated analysis of long non-coding and coding RNAs;Cell Cycle;2018-05-19

5. Bowel perforation in type IV vascular Ehlers–Danlos syndrome. A systematic review;Techniques in Coloproctology;2018-04-26

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