A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference22 articles.
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2. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation;Borck;Am. J. Med. Genet. Part A,2010
3. Ehlers-Danlos syndrome, classical type;Bowen;Am. J. Med. Genet. Part C,2017
4. A framework for the classification of joint hypermobility and related conditions;Castori;Am. J. Med. Genet. Part C,2017
5. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type;Castori;Am. J. Med. Genet. Part C,2015
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1. A Case of Repeated Injuries Leading to a Diagnosis of Classical Ehlers-Danlos Syndrome;International Journal of Surgical Wound Care;2023-12-01
2. Enrichment of Patients With Ehlers Danlos Syndrome in Idiopathic Gastroparesis—A Gene Set Enrichment Analysis;Clinical and Translational Gastroenterology;2022-08-22
3. Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome;Current Issues in Molecular Biology;2022-03-25
4. Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2021-03-31
5. The Beighton Score as a measure of generalised joint hypermobility;Rheumatology International;2021-03-18
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