Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family-Reference-Cited by-同舟云学术

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Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family

Published:2019-04 Issue:6 Volume:179 Page:1034-1041
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Zapata‐Aldana Eugenio¹^ORCID,Al‐Mobarak Sulaiman B.²,Karp Natalya³^ORCID,Campbell Craig²⁴

Affiliation:

1. Department of Pediatrics and Child Health, Rady Faculty of Health SciencesUniversity of Manitoba Winnipeg Manitoba Canada

2. Paediatric Neurology DepartmentChildren's Hospital, London Health Science Centre London Ontario Canada

3. Medical Genetics program, London Health Sciences CentreCanada University of Western Ontario London Ontario Canada

4. Department of Epidemiology, Schulich School of Medicine and DentistryWestern University London Ontario Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61143

Reference35 articles.

1. Familial Gordon syndrome associated with aPIEZO2mutation

2. Amyoplasia congenita (arthrogryposis multiplex congenita)

3. Piezo Proteins: Regulators of Mechanosensation and Other Cellular Processes

4. A revised and extended classification of the distal arthrogryposes

5. Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

Cited by 8 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. Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report;Children;2024-07-16

2. Mechanosensitive PIEZO2 channels shape coronary artery development;2024-07-11

3. Expression and Clinical Significance of PIEZO2 in Gastric Cancer;Combinatorial Chemistry & High Throughput Screening;2023-10

4. <i>PIEZO2</i> gene and its role in the development of distal arthrogryposis: A literature review;Pediatric Traumatology, Orthopaedics and Reconstructive Surgery;2023-07-05

5. Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene;Italian Journal of Pediatrics;2022-07-29

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