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The following terms were not found in PubMed: disability-corpus, agenesis-facial, dysmorphism-cerebellar
Page 1
Rhomboencephalosynapsis: Review of the Literature.
World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22.
World Neurosurg. 2022.
PMID: 34954057
Review.
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez-Hernandez syndrome (GLHS) or VACTERL: vertebral anomalies (V), anal atresia (A), cardiovascular defects (C), esophageal atresia and/o …
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez- …
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M.
Ebrahimi-Fakhari D, et al.
Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29.
Brain. 2016.
PMID: 26715604
Free PMC article.
Review.
Frequent early and severe involvement of the central nervous system puts the paediatric neurologist, neurogeneticist, and neurometabolic specialist at the forefront of recognizing and treating these rare conditions. ...Here we discuss 'congenital disorders of autophagy' as …
Frequent early and severe involvement of the central nervous system puts the paediatric neurologist, neurogeneticist, and neurometabo …
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The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH.
Sherr EH.
Curr Opin Pediatr. 2003 Dec;15(6):567-71. doi: 10.1097/00008480-200312000-00004.
Curr Opin Pediatr. 2003.
PMID: 14631200
Review.
RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyn …
RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with sp …
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