Condition: Trichorhinophalangeal Syndrome, Type III
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.
PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
PMID 11807863 2002 Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
PMID 27826100 2017 Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
PMID 28170084 2017 Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
PMID 23451857 2013 Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.
PMID 28050602 2017 Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
PMID 22964620 2012 Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.