Detailed clinical and radiological features of the first patient with Elsahy–Waters syndrome in East Asia-Reference-Cited by-同舟云学术

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Detailed clinical and radiological features of the first patient with Elsahy–Waters syndrome in East Asia

Published:2021-07-19 Issue:12 Volume:185 Page:3909-3915
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Minatogawa Mari¹²^ORCID,Tsukahara Yoshinori³,Yuzuriha Shunsuke⁴,Kosho Tomoki¹²⁵⁶^ORCID

Affiliation:

1. Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan

2. Center for Medical Genetics Shinshu University Hospital Matsumoto Japan

3. Department of Radiology Shinshu University School of Medicine Matsumoto Japan

4. Department of Plastic Surgery Shinshu University School of Medicine Matsumoto Japan

5. Research Center for Supports to Advanced Science Matsumoto Japan

6. Division of Clinical Sequencing Matsumoto Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62423

Reference6 articles.

1. Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance

2. A novel mutation in CDH11 , encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome

3. THE BRANCHIO-SKELETO-GENITAL SYNDROME

4. Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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. Cdh11: Roles in different diseases and potential value in disease diagnosis and treatment;Biochemistry and Biophysics Reports;2023-12

2. A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant;American Journal of Medical Genetics Part A;2023-08-30

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