Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

ABSTRACT Background Distal arthrogryposis with impaired proprioception and touch (DAIPT) is a rare autosomal recessive neurological disease characterized by progressive alteration of mechanosensation. DAIPT is caused by loss of function variants in the PIEZO2 gene that encodes an ionic channel invol...

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Κύριοι συγγραφείς:	Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Simona Baldassari, Marco Di Duca, Chiara Panicucci, Serena Baratto, Noemi Brolatti, Marina Pedemonte, Chiara Fiorillo, Claudio Bruno, Marcello Scala, Federico Zara, Francesca Faravelli, Francesca Madia, Serena Cappato, Renata Bocciardi, Valeria Capra
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Wiley 2025-08-01
Σειρά:	Molecular Genetics & Genomic Medicine
Θέματα:	DAIPT intronic variant PIEZO2 splicing
Διαθέσιμο Online:	https://doi.org/10.1002/mgg3.70126
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