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Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.
Pooh, Ritsuko Kimata; Machida, Megumi; Imoto, Issei; Arai, Eri Noel; Ohashi, Hiroyasu; Takeda, Masayoshi; Shimokawa, Osamu; Fukuta, Kaori; Shiozaki, Arihiro; Saito, Shigeru; Chiyo, Hideaki.
Afiliação
  • Pooh RK; Fetal Diagnostic Center, CRIFM Clinical Research Institute of Fetal Medicine, Osaka 543-0001, Japan.
  • Machida M; Clinical Laboratory, Ritz Medical Co., Ltd., Osaka 543-0001, Japan.
  • Imoto I; Fetal Diagnostic Center, CRIFM Clinical Research Institute of Fetal Medicine, Osaka 543-0001, Japan.
  • Arai EN; Division of Molecular Genetics, Aichi Cancer Research Institute, Aichi 464-8681, Japan.
  • Ohashi H; Department of Obstetrics and Gynecology, University of Toyama, Toyama 930-0194, Japan.
  • Takeda M; Clinical Laboratory, Ritz Medical Co., Ltd., Osaka 543-0001, Japan.
  • Shimokawa O; Clinical Laboratory, Ritz Medical Co., Ltd., Osaka 543-0001, Japan.
  • Fukuta K; Clinical Laboratory, Ritz Medical Co., Ltd., Osaka 543-0001, Japan.
  • Shiozaki A; Department of Obstetrics and Gynecology, University of Toyama, Toyama 930-0194, Japan.
  • Saito S; Department of Obstetrics and Gynecology, University of Toyama, Toyama 930-0194, Japan.
  • Chiyo H; Department of Obstetrics and Gynecology, University of Toyama, Toyama 930-0194, Japan.
Genes (Basel) ; 12(3)2021 03 02.
Article em En | MEDLINE | ID: mdl-33801456
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trissomia / Dissomia Uniparental / PTEN Fosfo-Hidrolase / Malformações do Desenvolvimento Cortical / Megalencefalia Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trissomia / Dissomia Uniparental / PTEN Fosfo-Hidrolase / Malformações do Desenvolvimento Cortical / Megalencefalia Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article