A very early diagnosis of Alstr ӧm syndrome by next generation sequencing

Alstr öm 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, hea...

Source: BMC Medical Genetics - September 1, 2020 Category: Genetics & Stem Cells Authors: Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podrack á, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo and Matteo Bertelli Tags: Case report Source Type: research