A very early diagnosis of Alstrӧm syndrome by next generation sequencing

• Main Authors: Leonardo Gatticchi (Author), Jan Miertus (Author), Paolo Enrico Maltese (Author), Simone Bressan (Author), Luca De Antoni (Author), Ludmila Podracká (Author), Lucia Piteková (Author), Vanda Rísová (Author), Mari Mällo (Author), Kaie Jaakson (Author), Kairit Joost (Author), Leonardo Colombo (Author), Matteo Bertelli (Author)
• Formato: Libro
• Publicado: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

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 di...