Associated Papers
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).
Bellardita M et al.
Molecular Genetics & Genomic Medicine, 2025
40772608 (PubMed )
Supplement: MGG3-13-e70126-s003.xlsx › Foglio1
PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.
Sherlaw-Sturrock CA et al.
American Journal of Medical Genetics. Part A, 2022
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi T et al.
American Journal of Medical Genetics. Part A, 2019
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.
Ma Y et al.
Experimental and Therapeutic Medicine, 2019
A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.
Masingue M et al.
Neuromuscular Disorders : Nmd, 2019
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S et al.
Bmc Medical Genetics, 2018
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
Haliloglu G et al.
Journal of Human Genetics, 2017
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