Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

SATB2-associated syndrome (SAS) is an autosomal dominant neurogenetic multisystemic disorder. We describe two individuals with global developmental delay and hypotonia who underwent an extensive evaluation to rule out an underlying mitochondrial disorder before their eventual diagnosis of SAS. Altho...

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Detalles Bibliográficos
Autores principales: Zarate, Yuri A., Vernon, Hilary J., Bosanko, Katherine A., Ramani, Praveen K., Gokden, Murat, Writzl, Karin, Meznaric, Marija, Vipotnik Vesnaver, Tina, Ramakrishnaiah, Raghu, Osredkar, Damjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257052/
https://www.ncbi.nlm.nih.gov/pubmed/34234817
http://dx.doi.org/10.3389/fgene.2021.692087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257052/
https://www.ncbi.nlm.nih.gov/pubmed/34234817
http://dx.doi.org/10.3389/fgene.2021.692087

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