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Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Szalai, Renata; Melegh, Bela I; Till, Agnes; Ripszam, Reka; Csabi, Gyorgyi; Acharya, Anushree; Schrauwen, Isabelle; Leal, Suzanne M; Komoly, Samuel; Kosztolanyi, Gyorgy; Hadzsiev, Kinga.
  • Szalai R; University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary. Electronic address: szalai.renata@pte.hu.
  • Melegh BI; University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary.
  • Till A; University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary.
  • Ripszam R; University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary.
  • Csabi G; University of Pecs, Medical School, Department of Pediatrics, Pecs, Hungary.
  • Acharya A; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New
  • Schrauwen I; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New
  • Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New
  • Komoly S; University of Pecs, Medical School, Department of Neurology, Pecs, Hungary.
  • Kosztolanyi G; University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary.
  • Hadzsiev K; University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary.
Exp Mol Pathol ; 115: 104471, 2020 08.
Article en En | MEDLINE | ID: mdl-32446860
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Dedos del Pie / Polidactilia / Patrón de Herencia / Proteínas Proto-Oncogénicas c-akt / Megalencefalia / Dedos / Polimicrogiria / Células Germinativas / Hidrocefalia / Mosaicismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Dedos del Pie / Polidactilia / Patrón de Herencia / Proteínas Proto-Oncogénicas c-akt / Megalencefalia / Dedos / Polimicrogiria / Células Germinativas / Hidrocefalia / Mosaicismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article