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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 |
Ann Child Neurol. 2021;29(2):101-104. Published online March 16, 2021 DOI: https://doi.org/10.26815/acn.2020.00311 |
A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case in Korea MAST1-related mega-corpus-callosum syndrome with central hypogonadism Mega-Corpus Callosum, Polymicrogyria, and Psychomotor Retardation Syndrome MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review Carbamazepine Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation Case Report: Callosal disconnection syndrome manifesting as mixed frontal-callosal-posterior alien hand syndrome following extensive corpus callosum infarct Fingolimod Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome |