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
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
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Delle Vedove A et al.
American Journal of Human Genetics, 2016
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ et al.
American Journal of Human Genetics, 2014
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