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...

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Detalles Bibliográficos
Autores principales: Marozio, Luca, Dassie, Francesca, Bertschy, Gianluca, Canuto, Emilie M., Milan, Gabriella, Cosma, Stefano, Maffei, Pietro, Benedetto, Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573963/
https://www.ncbi.nlm.nih.gov/pubmed/36263420
http://dx.doi.org/10.3389/fgene.2022.995947

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573963/
https://www.ncbi.nlm.nih.gov/pubmed/36263420
http://dx.doi.org/10.3389/fgene.2022.995947

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