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Dupuytren’s and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene

Dupuytren’s disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot. While clinical aspects are well-described, genetic mechanisms are unknown. We report a family with cardi...

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Vydáno v:Cells
Hlavní autoři: Zaragoza, Michael V., Nguyen, Cecilia H. H., Widyastuti, Halida P., McCarthy, Linda A., Grosberg, Anna
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5753070/
https://ncbi.nlm.nih.gov/pubmed/29104234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells6040040
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