Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
|
24118415 |
2013 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK).
|
22668561 |
2013 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK).
|
22668561 |
2013 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
|
21160496 |
2011 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A large mutational study in pachyonychia congenita.
|
21326300 |
2011 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
|
21160496 |
2011 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
|
17719747 |
2007 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
The genetic basis of pachyonychia congenita.
|
16250206 |
2005 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
|
11359398 |
2001 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
|
11886499 |
2001 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
We have previously shown that mutations in keratin 16 (K16) cause fragility of specific epithelia resulting in phenotypes of PC-1 or FNEPPK alone.
|
10839714 |
2000 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that mutations in keratin 16 (K16) cause fragility of specific epithelia resulting in phenotypes of PC-1 or FNEPPK alone.
|
10839714 |
2000 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
BEFREE |
Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis.
|
10232400 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
|
10606845 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.
|
10606845 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
BEFREE |
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.
|
10521820 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
This work will greatly improve K16 mutation analysis and allow predictive testing for PC-1 and the related phenotype of FNEPPK.
|
10521820 |
1999 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
|
7539673 |
1995 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
|
7539673 |
1995 |
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
MGD |
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
|
21160496 |
2011 |
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
|
7539673 |
1995 |