Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
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Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosisDominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model.Inherited desmosomal disorders.The twisting tale of woolly hair: a trait with many causes.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
P2860
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 22 July 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Novel homozygous mutation in D ...... esmoplakin-related phenotypes.
@en
Novel homozygous mutation in D ...... esmoplakin-related phenotypes.
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type
label
Novel homozygous mutation in D ...... esmoplakin-related phenotypes.
@en
Novel homozygous mutation in D ...... esmoplakin-related phenotypes.
@nl
prefLabel
Novel homozygous mutation in D ...... esmoplakin-related phenotypes.
@en
Novel homozygous mutation in D ...... esmoplakin-related phenotypes.
@nl
P2093
P2860
P1433
P1476
Novel homozygous mutation in D ...... esmoplakin-related phenotypes.
@en
P2093
A Al-Fatani
H Al-Hindi
M Al-Owain
P2860
P356
10.1111/J.1399-0004.2010.01518.X
P577
2010-07-22T00:00:00Z