Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene

Sengers syndrome (OMIM #212350) is a rare autosomal recessive disorder due to mutations in acylglycerol kinase (AGK) gene. We report two cases that were diagnosed clinically and confirmed genetically. Both infants had typical clinical features characterized by hypertrophic cardiomyopathy, bilateral...

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Detalles Bibliográficos
Autores principales: Wang, Benzhen, Du, Zhanhui, Shan, Guangsong, Yan, Chuanzhu, Zhang, Victor Wei, Li, Zipu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215120/
https://www.ncbi.nlm.nih.gov/pubmed/34164355
http://dx.doi.org/10.3389/fped.2021.639687

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215120/
https://www.ncbi.nlm.nih.gov/pubmed/34164355
http://dx.doi.org/10.3389/fped.2021.639687

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