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| A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with PIK3CA Mutation |
| Young Mi Park, Yoon-Myung Kim, Seong Hee Oh, Hyun-Seung Jin |
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Neonatal Med. 2023;30(2):55-59. Published online May 31, 2023 DOI: https://doi.org/10.5385/nm.2023.30.2.55 |
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A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with PIK3CA Mutation Neonatal Medicine. 2023;30(2):55-59  Commentary on “Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea” Korean Journal of Pediatrics. 2018;61(1):35 Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea Korean Journal of Pediatrics. 2016;59(Suppl 1):S152 Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations Orphanet Journal of Rare Diseases. 2020;15(1): Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome Prenatal Diagnosis. 2013;33(10):1010-1012 Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 2020;47(6):828-829 Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? European Journal of Human Genetics. 2014;23(3):409-412 Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes American Journal of Medical Genetics Part A. 2009;149A(5):868-876 The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome American Journal of Medical Genetics Part A. 2013;161(8):2115-2116 The Orthopaedic Management of Hip Dysplasia with Underlying Megalencephaly-Capillary Malformation Syndrome: a Case Report SN Comprehensive Clinical Medicine. 2022;4(1): |
