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| A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly |
| Jihyun Noh, Euiseok Jung, Ah Young Jung, Beom Hee Lee, Byong Sop Lee, Ellen Ai-Rhan Kim, Ki-Soo Kim |
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Neonatal Med. 2020;27(1):16-20. Published online February 29, 2020 DOI: https://doi.org/10.5385/nm.2020.27.1.16 |
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A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly Neonatal Medicine. 2020;27(1):16-20  COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis Pediatric Neurology. 2017;66:100-103 COL4A1 Mutation in Preterm Intraventricular Hemorrhage The Journal of Pediatrics. 2009;155(5):743-745 p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia Frontiers in Neurology. 2020;11: Intraventricular Hemorrhage in the Neonate Fetal and Neonatal Physiology. 2011;1830-1847 Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation Pediatrics & Neonatology. 2016;57(6):522-525 Intraventricular Hemorrhage in the Neonate Fetal and Neonatal Physiology. 2017;1333-1349.e6 Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation Neurological Sciences. 2015;37(3):459-463 Porencephaly in a fetus and HANAC in her father: Variable expression ofCOL4A1mutation American Journal of Medical Genetics Part A. 2014;167(1):156-158 Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly Journal of Neuropathology & Experimental Neurology. 2021;80(8):807-810 |
