A very early diagnosis of Alstrӧm syndrome by next generation sequencing

BACKGROUND: Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin resistance, hyperinsulinemia, type 2 diabetes me...

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Bibliografski detalji
Izdano u:BMC Med Genet
Glavni autori: Gatticchi, Leonardo, Miertus, Jan, Maltese, Paolo Enrico, Bressan, Simone, De Antoni, Luca, Podracká, Ludmila, Piteková, Lucia, Rísová, Vanda, Mällo, Mari, Jaakson, Kaie, Joost, Kairit, Colombo, Leonardo, Bertelli, Matteo
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7460749/
https://ncbi.nlm.nih.gov/pubmed/32867697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01110-1
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