Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review

European Journal of Paediatric Neurology 2026

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Authors: D. Diodato, L. Bosco, M. Catteruccia, A. Sancesario, J. Jofrè, B. Suarez, P. Lacaux, M. Tosi, G. De Luca, I. Mizzoni, S. Pro, E. Bellacchio
+5 more F. Fattori, A. Novelli, E. Bertini, C. Castiglioni, A. D’Amico
DOI: 10.1016/j.ejpn.2026.01.003
Cited by: 2
References: 18

Fields of Study & Subjects

Erythrocyte Function and Pathophysiology Ion channel regulation and function Blood properties and coagulation

Publication details

Journal / source
European Journal of Paediatric Neurology
Publisher
Elsevier BV
Volume
61
Pages
24–35
Publication date
21 February 2026
Language
EN