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pro vyhledávání: '"Praveen K. Ramani"'
Autor:
Yuri A. Zarate, Hilary J. Vernon, Katherine A. Bosanko, Praveen K. Ramani, Murat Gokden, Karin Writzl, Marija Meznaric, Tina Vipotnik Vesnaver, Raghu Ramakrishnaiah, Damjan Osredkar
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
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 diso
Externí odkaz:
https://doaj.org/article/955648d547274d55aecf736df90f055e
