Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome-Reference-Cited by-同舟云学术

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

Published:2020-02-24 Issue:5 Volume:182 Page:994-1007
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ayoub Sandy¹,Ghali Neeti¹,Angwin Chloe¹,Baker Duncan²,Baffini Stella³,Brady Angela F.¹,Giovannucci Uzielli Maria Luisa³,Giunta Cecilia⁴,Johnson Diana S.⁵,Kosho Tomoki⁶^ORCID,Neas Katherine⁷,Pope F. Michael¹,Rutsch Frank⁸,Scarselli Gloria³,Sobey Glenda⁵,Vandersteen Anthony⁹,Dijk Fleur S.¹^ORCID

Affiliation:

1. Ehlers‐Danlos Syndrome National Diagnostic ServiceNorthwick Park and St. Mark's Hospitals, Harrow London UK

2. Sheffield Children's NHS Foundation TrustSheffield Diagnostic Genetics Service Sheffield UK

3. Genetics SciencePiazza Savonarola 11 Florence Italy

4. Connective Tissue Unit, Division of Metabolism and Children's Research CentreUniversity Children's Hospital Zurich Switzerland

5. Ehlers‐Danlos Syndrome National Diagnostic ServiceSheffield Children's Hospital Sheffield UK

6. Department of Medical GeneticsShinshu University School of Medicine Matsumoto Japan

7. Genetic Health Service New Zealand Wellington New Zealand

8. Department of PediatricsUniversity of Münster Münster Germany

9. Maritime Medical Genetics ServiceIWK Health Centre Halifax Nova Scotia Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61523

Reference38 articles.

1. Ehlers-Danlos syndrome, classical type

2. The Ehlers-Danlos syndromes, rare types

3. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

4. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

5. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers‐Danlos syndrome type VII;Chiodo A. A.;Journal of Biological Chemistry,1992

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