Novel PIEZO 2 mutations resulting in distal arthrogyposis with impaired proprioception and touch, alongside epilepsy: A clinical case report.

Author:

Hafeez Komal,Abid Farida,Sharp Lydia

Publisher

Elsevier BV

Reference14 articles.

1. The role of PIEZO2 in human mechanosensation;Chesler;N. Engl. J. Med.,2016

2. The form and function of PIEZO2;Szczot;Annu. Rev. Biochem.,2021

3. Piezo channels: from structure to function;Volkers;Pflügers Arch. -Eur. J. Physiol.,2015

4. Mutations in PIEZO2 contribute to Gordon syndrome, Marden‑Walker syndrome and distal arthrogryposis: a bioinformatics analysis of mechanisms;Ma;Exp. Ther. Med.,2019

5. Distal arthrogryposis with impaired proprioception and touch: description of an early phenotype in a boy with compound heterozygosity of PIEZO2 mutations and review of the literature;Behunova;Mol. Syndromol.,2019

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