Variant: rs1057518972 

    present in Gene: TRPS1
    present in Chromosome: 8
    Position on Chromosome: 115418359
    Alleles of this Variant: C/T

rs1057518972 in TRPS1 gene and Trichorhinophalangeal Syndrome, Type III PMID 24502542 2014 Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.

PMID 28468609 2017 A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

PMID 18946009 2008 Tricho-rhino-phalangeal syndrome with supernumerary teeth.

rs1057518972 in TRPS1 gene and Trichorhinophalangeal dysplasia type I PMID 28468609 2017 A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

PMID 24502542 2014 Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.

PMID 18946009 2008 Tricho-rhino-phalangeal syndrome with supernumerary teeth.

PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.