present in Gene: PIEZO2
present in Chromosome: 18
Position on Chromosome: 10758112
Alleles of this Variant: A/-
rs1555639568 in
PIEZO2 gene and
Dysmorphic features
PMID 27912047 2016 Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
PMID 24649842 2014 Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.
PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
PMID 27653382 2016 The Role of PIEZO2 in Human Mechanosensation.
PMID 19571066 2009 Arthrogryposis: a review and update.
PMID 27607563 2017 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.
PMID 17345626 2007 Pulmonary disease is a component of distal arthrogryposis type 5.
PMID 25712306 2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.