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Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2 ‐related distal arthrogryposis type 5

  • Published:2022-11 Issue:2 Volume:191 Page:546-553
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:American J of Med Genetics Pt A

Author:

Oliwa Agata1ORCID,Hendson Glenda2,Longman Cheryl3,Synnes Anne4,Seath Kim5,Barnicoat Angela6,Hall Judith G.5,Patel Millan S.5ORCID

Affiliation:

1. Undergraduate Medical School, College of Medical, Veterinary & Life Sciences University of Glasgow Glasgow UK

2. Division of Neuropathology, Department of Pathology University of British Columbia Vancouver British Columbia Canada

3. West of Scotland Regional Genetics Service Queen Elizabeth University Hospital Glasgow UK

4. Division of Neonatology, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada

5. Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada

6. Clinical Genetics Department Great Ormond Street Hospital London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 1 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. <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
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