<i> <scp>PIEZO2</scp> ‐ </i> related distal arthrogryposis type 5: Longitudinal follow‐up of a three‐generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group-Reference-Cited by-同舟云学术

PIEZO2 ‐ related distal arthrogryposis type 5: Longitudinal follow‐up of a three‐generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group

Published:2022-06-14 Issue:9 Volume:188 Page:2790-2795
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:

Sherlaw‐Sturrock Charlotte A.¹^ORCID,Willis Tracey²,Kiely Nigel³,Houge Gunnar⁴,Vogt Julie¹

Affiliation:

1. West Midlands Regional Genetics Service Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

2. Neuromuscular Service Robert Jones and Agnes Hunt Orthopaedic Hospital Oswestry UK

3. Department of Orthopaedic Surgery Robert Jones and Agnes Hunt Orthopaedic Hospital Oswestry UK

4. Department of Medical Genetics Haukeland University Hospital Bergen Norway

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62868

Reference23 articles.

1. Familial Gordon syndrome associated with aPIEZO2mutation

2. Familial Gordon syndrome associated with aPIEZO2mutation

3. The Role of PIEZO2 in Human Mechanosensation

4. Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

5. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

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1. Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene;Neuromuscular Diseases;2024-05-24