Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia
about
Genetics of inherited cardiocutaneous syndromes: a reviewAutosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/NoncompactionCombination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
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Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia
description
im November 2012 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в листопаді 2012
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name
Expanding the phenotype associ ...... th leukonychia and oligodontia
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Expanding the phenotype associ ...... th leukonychia and oligodontia
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type
label
Expanding the phenotype associ ...... th leukonychia and oligodontia
@en
Expanding the phenotype associ ...... th leukonychia and oligodontia
@nl
prefLabel
Expanding the phenotype associ ...... th leukonychia and oligodontia
@en
Expanding the phenotype associ ...... th leukonychia and oligodontia
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P2093
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P1476
Expanding the phenotype associ ...... th leukonychia and oligodontia
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P2093
Audrey Mallet
Damien Bonnet
Daniela Laux
Didier Klug
Francoise Simon
Veronique Fressart
P356
10.1016/J.IJCARD.2012.06.068
P407
P577
2012-11-01T00:00:00Z