|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
|
28170084 |
2017 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
|
28468609 |
2017 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
|
28050602 |
2017 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
|
27826100 |
2017 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
|
25792522 |
2015 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
|
24502542 |
2014 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions.
|
23835950 |
2013 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I.
|
23510776 |
2013 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.
|
23451857 |
2013 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.
|
22964620 |
2012 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients.
|
20394624 |
2010 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Tricho-rhino-phalangeal syndrome with supernumerary teeth.
|
18946009 |
2008 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
|
14560312 |
2004 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
Biomarker
|
disease |
MGD |
Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.
|
12446778 |
2002 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
|
11112658 |
2001 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
|
10615131 |
2000 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient.
|
10647898 |
1999 |
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Trichorhinophalangeal dysplasia type I
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
|
28050602 |
2017 |
|
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
|
28170084 |
2017 |
|
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
|
27826100 |
2017 |
|
Trichorhinophalangeal Syndrome, Type III
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
|
28468609 |
2017 |