A family of distal arthrogryposis type 5 due to a novelPIEZO2mutation-Reference-Cited by-同舟云学术

A family of distal arthrogryposis type 5 due to a novelPIEZO2mutation

Published:2015-02-25 Issue:5 Volume:167 Page:1100-1106
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Okubo Mariko¹,Fujita Atsushi²,Saito Yoshiaki¹,Komaki Hirofumi¹,Ishiyama Akihiko¹,Takeshita Eri¹,Kojima Emiko¹,Koichihara Reiko¹,Saito Takashi¹,Nakagawa Eiji¹,Sugai Kenji¹,Yamazaki Hiroko³,Kusaka Kei⁴,Tanaka Hiroshi⁵,Miyake Noriko²,Matsumoto Naomichi²,Sasaki Masayuki¹

Affiliation:

1. Department of Child Neurology; National Center of Neurology and Psychiatry; Japan

2. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Japan

3. Department of Ophthalmology; National Center of Neurology and Psychiatry; Japan

4. Center for Pulmonary Disease; National Hospital Organization Tokyo National Hospital; Japan

5. Department of Orthopedics; National Rehabilitation Center for Children with Disabilities; Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36881/fullpdf

Reference25 articles.

1. A revised and extended classification of the distal arthrogryposes;Bamshad;Am J Med Genet,1996

2. Arthrogryposis: A review and update;Bamshad;J Bone Joint Surg Am,2009

3. Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia;Beals;Am J Med Genet A,2004

4. Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5;Castori;Am J Med Genet A,2009

5. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis;Coste;Proc Natl Acad Sci USA,2013

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3. Piezo protein determines stem cell fate by transmitting mechanical signals;Human Cell;2022-12-29

4. 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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