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Article

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures

8 Sept 2016

Abstract excerpt

Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. Some observations suggest that these dominant mutations induce a gain-of-function effect on the channel. Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor...

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PMID: 27607563
DOI: 10.1111/cge.12850

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Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contracturesPMID 27607563Read ↗

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 LiteratureSemantic proximity Read ↗

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