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Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function

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Year: 2026
Type: article
Study design: Case Report
Source: Practical Neurology
DOI: 10.1136/pn-2025-004946
Authors: Daniel Delgado Seneor, Patrícia Marques Mendes, Fernando Augustus De Paula Barreto Garcia, Eduardo Mendonça Werneck da Silva, Igor Braga Farias, João Paulo Barile, Renan Brandão Rambaldi Cavalheiro, Paulo de Lima Serrano, Wladimir B V R Pinto, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza
Institution: Universidade Federal de São Paulo
Language: English

Topic: Hereditary Neurological Disorders
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W7118685141
FWCI: 2.529
Cites: 11
Cited by: 1
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