Variant: rs587777450 

    present in Gene: PIEZO2
    present in Chromosome: 18
    Position on Chromosome: 10671729
    Alleles of this Variant: C/T

rs587777450 in PIEZO2 gene and ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

rs587777450 in PIEZO2 gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs587777450 in PIEZO2 gene and Dysmorphic features PMID 19571066 2009 Arthrogryposis: a review and update.

PMID 17345626 2007 Pulmonary disease is a component of distal arthrogryposis type 5.

PMID 27912047 2016 Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

PMID 27607563 2017 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

PMID 27653382 2016 The Role of PIEZO2 in Human Mechanosensation.

PMID 25712306 2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

PMID 24649842 2014 Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

rs587777450 in PIEZO2 gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs587777450 in PIEZO2 gene and Multiple congenital anomalies PMID 24649842 2014 Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

PMID 19571066 2009 Arthrogryposis: a review and update.

PMID 27912047 2016 Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

PMID 17345626 2007 Pulmonary disease is a component of distal arthrogryposis type 5.

PMID 27653382 2016 The Role of PIEZO2 in Human Mechanosensation.

PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

PMID 27607563 2017 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

PMID 25712306 2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

rs587777450 in PIEZO2 gene and Oculomelic amyoplasia PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.