Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report

BACKGROUND: Alström syndrome (AS) is a rare autosomal recessive disease that is generally induced by mutations of the Alström syndrome 1 (ALMS1) gene. We report a case of AS, extend the spectrum of ALMS1 mutations and highlight the biological role of ALMS1 to explore the relationship between dilated...

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Detalles Bibliográficos
Autores principales: Jiang, Ping, Xiao, Liang, Guo, Yuan, Hu, Rong, Zhang, Bo-Yi, He, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895183/
https://www.ncbi.nlm.nih.gov/pubmed/35321175
http://dx.doi.org/10.12998/wjcc.v10.i7.2330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895183/
https://www.ncbi.nlm.nih.gov/pubmed/35321175
http://dx.doi.org/10.12998/wjcc.v10.i7.2330

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