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| 14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay |
| Jae Hyuk Kwon, Young Hwa Song, Jung Min Yoon, Eun Jung Cheon, Kyung Ok Ko, Jae Woo Lim, Hyon J. Kim |
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Neonatal Med. 2020;27(4):207-213. Published online November 30, 2020 DOI: https://doi.org/10.5385/nm.2020.27.4.207 |
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14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay Neonatal Medicine. 2020;27(4):207-213  Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia Ultrasound in Obstetrics and Gynecology. 2002;20(6):616-619 Corpus callosum and visual cortex of mice with deletion of the NMDA-NR1 receptor Developmental Brain Research. 2003;144(2):135-150 A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features Molecular Genetics & Genomic Medicine. 2020;8(11): Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis Developmental Medicine & Child Neurology. 2011;53(11):994-999 1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum Molecular Syndromology. 2019;10(3):161-166 EP09.12: Genetic abnormalities and long‐term prognosis of fetal corpus callosum hypoplasia and partial absence of corpus callosum Ultrasound in Obstetrics & Gynecology. 2022;60(S1):123-124 Corpus callosum and visual cortex of mice with deletion of the NMDA-NR1 receptor: I. Accelerated development of callosal projection neurons Developmental Brain Research. 2003;144(2):121-133 Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion American Journal of Medical Genetics Part A. 2017;173(9):2467-2471 Role of Corpus Callosum in Global Developmental Delay Asian Journal of Medical Radiological Research. 2020;8(1):128-131 |
