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| A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case in Korea |
| Yun Jung Hur, Woo Yeong Chung, Yun-Jung Lim, Soyoung Park, Kyung Ran Jun |
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Ann Child Neurol. 2021;29(2):101-104. Published online March 16, 2021 DOI: https://doi.org/10.26815/acn.2020.00311 |
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A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case in Korea Annals of Child Neurology. 2021;29(2):101-104  MAST1
variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia American Journal of Medical Genetics Part A. 2020;182(6):1483-1490 Mega-Corpus Callosum, Polymicrogyria, and Psychomotor Retardation Syndrome Pediatric Neurology. 2010;42(2):129-132 Carbamazepine Reactions Weekly. 2022;1904(1):129-129 Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation Acta Neurologica Belgica. 2015;116(2):223-224 Fingolimod Reactions Weekly. 2016;1611(1):87-87 Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome American Journal of Medical Genetics Part A. 2010;152A(9):2360-2364 A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development American Journal of Medical Genetics Part A. 2007;146A(2):204-207 Corpus callosum agenesis and clinically isolated syndrome (CIS): A case report Multiple Sclerosis and Related Disorders. 2019;27:342-343 Apert syndrome with lobar holoprosencephaly and agenesis of corpus callosum in a Palestinian neonate: case report International Journal of Medical Reviews and Case Reports. 2019;2(Reports in Surgery and Dermatolo):1 |
