Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference21 articles.
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5. The distal arthrogryposes: Delineation of new entities-Review and nosologic discussion;Hall;Am J Med Genet,1982
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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
2. Long term ophthalmic complications of distal arthrogryposis type 5D;Ophthalmic Genetics;2022-12-02
3. A family of distal arthrogryposis type 5 due to a novelPIEZO2mutation;American Journal of Medical Genetics Part A;2015-02-25
4. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis;Proceedings of the National Academy of Sciences;2013-03-04
5. Arthrogryposes (Multiple Congenital Contractures);Emery and Rimoin's Principles and Practice of Medical Genetics;2013
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