Associated Papers
A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.
Pu L et al.
Prenatal Diagnosis, 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
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
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ et al.
American Journal of Human Genetics, 2014
Select a paper to view details