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A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2.
Feng, Jincai; Lan, Xiaoping; Shen, Jun; Song, Xiaozhen; Tang, Xiaojun; Xu, Wuhen; Ren, Xiang; Zhang, Hong; Yu, Guangjun; Wu, Shengnan.
Afiliação
  • Feng J; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Lan X; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Shen J; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Song X; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Tang X; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Xu W; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Ren X; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Zhang H; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Yu G; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
  • Wu S; Department of Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
Mol Genet Genomic Med ; 8(2): e1096, 2020 02.
Article em En | MEDLINE | ID: mdl-31903734

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades da Pele / Mutação de Sentido Incorreto / Cútis Laxa / Hamartoma / Proteínas Associadas aos Microtúbulos Limite: Child, preschool / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades da Pele / Mutação de Sentido Incorreto / Cútis Laxa / Hamartoma / Proteínas Associadas aos Microtúbulos Limite: Child, preschool / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article