Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome

BACKGROUND: Syndromic dilated cardiomyopathy (DCM) includes a group of complex disorders with a very heterogeneous genetic etiology, leading to delay in definitive diagnosis. Conversely, an early genetic diagnosis is very important in determining the disease course, the prognosis, and may guide pers...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Lombardo, Barbara, D'Argenio, Valeria, Monda, Emanuele, Vitale, Andrea, Caiazza, Martina, Sacchetti, Lucia, Pastore, Lucio, Limongelli, Giuseppe, Frisso, Giulia, Mazzaccara, Cristina
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336746/
https://ncbi.nlm.nih.gov/pubmed/32396277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1260
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