Condition: Trichorhinophalangeal dysplasia type I
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.
PMID 27826100 2017 Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
PMID 28170084 2017 Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
PMID 22964620 2012 Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.
PMID 23451857 2013 Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.
PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
PMID 28050602 2017 Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.