Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

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[Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

P2860

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P2860

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

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http://www.wikidata.org/entity/Q41428408

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2015 nî lūn-bûn

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2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

@en

type

Item

label

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

@en

prefLabel

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

@en

P1476

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

@en

P2093

Denis Sasseville

http://www.w3.org/2001/XMLSchema#string

Fahad Almutawa

http://www.w3.org/2001/XMLSchema#string

Kevin Watters

http://www.w3.org/2001/XMLSchema#string

Tenzin Gayden

http://www.w3.org/2001/XMLSchema#string

Thusanth Thusaringam

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P2860

Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

The phenotypic and molecular genetic features of pachyonychia congenita.

What can exome sequencing do for you?

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes.

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.

An appraisal of oral retinoids in the treatment of pachyonychia congenita.

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

P304

220-226

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P31

scholarly article

P356

10.1159/000438920

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Nada Jabado

P577

2015-05-01T00:00:00Z

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P5875

282872325

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26464567

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P932

4592507

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Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

about

P2860

P2860

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932