المؤلفون: Martín-Valbuena J; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain., Gestoso-Uzal N; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Department of Medicine, University of Salamanca, Salamanca, Spain., Justel-Rodríguez M; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain., Isidoro-García M; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Marcos-Vadillo E; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Lorenzo-Hernández SM; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Criado-Muriel MC; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain. mccriado@saludcastillayleon.es.; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain. mccriado@saludcastillayleon.es.; Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain. mccriado@saludcastillayleon.es., Prieto-Matos P; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain.; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain.

المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Jun; Vol. 40 (6), pp. 1689-1697. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: PTEN Phosphohydrolase*/genetics , Hamartoma Syndrome, Multiple*/genetics , Hamartoma Syndrome, Multiple*/diagnostic imaging, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Retrospective Studies ; Infant ; Mutation/genetics ; Megalencephaly/genetics ; Megalencephaly/diagnostic imaging