Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
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Report of the 10th Annual International Pachyonychia Congenita Consortium MeetingPCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.Gene expression profiling in pachyonychia congenita skinKeratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.[Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].Keratins and skin disease.Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.The molecular genetic analysis of the expanding pachyonychia congenita case collection.First Report of Pachyonychia Congenita Type PC-K6a in the Romanian PopulationMutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation.Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
P2860
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P2860
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
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2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
@ast
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
@en
type
label
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
@ast
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
@en
prefLabel
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
@ast
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
@en
P2093
P2860
P356
P1476
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations
@en
P2093
Frances J D Smith
Jean Y Tang
Mary E Schwartz
Neil J Wilson
Sancy A Leachman
P2860
P2888
P304
P356
10.1038/JID.2010.373
P407
P577
2010-12-16T00:00:00Z
P5875
P6179
1026702242