A familial case of periodontal <scp>Ehlers–Danlos</scp> syndrome lacking skin extensibility and joint hypermobility with a missense mutation in <scp> <i>C1R</i> </scp>-Reference-Cited by-同舟云学术

A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

Published:2022-04 Issue:7 Volume:49 Page:714-718
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Nakajima Kimiko¹^ORCID,Suzuki Hisato²,Yamamoto Mayuko¹,Yamamoto Tetsuya³,Kawai Tomoko⁴,Nakabayashi Kazuhiko⁴,Hata Kenichiro⁴,Kosaki Kenjiro²,Nakajima Hideki¹^ORCID,Sano Shigetoshi¹^ORCID,Kubo Akiharu⁵⁶^ORCID

Affiliation:

1. Department of Dermatology, Kochi Medical School Kochi University Kochi Japan

2. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

3. Department of Oral and Maxillofacial Surgery Kochi Medical School, Kochi University Kochi Japan

4. Department of Maternal‐Fetal Biology National Reseasch Institute for Child Health and Development Tokyo Japan

5. Division of Dermatology, Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan

6. Department of Dermatology Keio University School of Medicine Tokyo Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16372

Reference14 articles.

1. The 2017 international classification of the Ehlers-Danlos syndromes

2. Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

3. The Ehlers-Danlos syndromes, rare types

4. A new variant of Ehlers‐Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis;Stewart RE;Birth Defects Orig Artic Ser,1977

5. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Cited by 2 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. Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome;Frontiers in Genetics;2023-05-31

2. Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome;Journal of Clinical Periodontology;2022-07-29