present in Gene: TP63
present in Chromosome: 3
Position on Chromosome: 189868624
Alleles of this Variant: C/G
rs797044484 in
TP63 gene and
Blepharitis
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Blepharophimosis
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Cleft lip or lips
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Cleft palate, isolated
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Corneal Ulcer
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Hypodontia
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Hypothyroidism
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Obstruction of nasolacrimal duct
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
rs797044484 in
TP63 gene and
Sensorineural hearing loss, bilateral
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.