Associated Papers
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Akinci G et al.
Neuromuscular Disorders : Nmd, 2025
Mechanisms of PIEZO Channel Inactivation.
Zhou Z et al.
International Journal of Molecular Sciences, 2023
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A et al.
American Journal of Medical Genetics. Part A, 2023
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
Abdel-Salam GMH et al.
Molecular Syndromology, 2022
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
Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.
Whittle J et al.
Genes, 2021
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
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
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A et al.
Npj Genomic Medicine, 2018
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
Okubo M et al.
American Journal of Medical Genetics. Part A, 2015
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
Coste B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
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