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Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)
BACKGROUND: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, o...
में बचाया:
| में प्रकाशित: | Mol Genet Metab Rep |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Elsevier
2016
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5471549/ https://ncbi.nlm.nih.gov/pubmed/28649555 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.05.005 |
| टैग : |
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