A very early diagnosis of Alstrӧm syndrome by next generation sequencing

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

Abstract 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 dia...

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Bibliographic Details
Main Authors: Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Medical Genetics
Subjects:
Alström syndrome
ALMS1
Next generation sequencing
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01110-1

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http://link.springer.com/article/10.1186/s12881-020-01110-1

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