Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome

Background: Alström syndrome (AS) is an ultrarare multisystemic progressive disease caused by autosomal recessive variations of the ALMS1 gene (2p13). AS is characterized by double sensory impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, early nonalcoholic fatty liver disea...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Luca Marozio, Francesca Dassie, Gianluca Bertschy, Emilie M. Canuto, Gabriella Milan, Stefano Cosma, Pietro Maffei, Chiara Benedetto
Format: Artikel
Sprache:English
Veröffentlicht: Frontiers Media S.A. 2022-10-01
Schriftenreihe:Frontiers in Genetics
Schlagworte:
Online Zugang:https://www.frontiersin.org/articles/10.3389/fgene.2022.995947/full