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Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype.
Bai, Zhuanli; Qu, Yiping; Shi, Lin; Li, Xinju; Yang, Zhen; Ji, Meiju; Hou, Peng.
Afiliación
  • Bai Z; Department of Plastic and Aesthetic Maxillofacial Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
  • Qu Y; Key Laboratory for Tumor Precision Medicine of Shaanxi Province and Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
  • Shi L; Key Laboratory for Tumor Precision Medicine of Shaanxi Province and Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
  • Li X; Key Laboratory for Tumor Precision Medicine of Shaanxi Province and Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
  • Yang Z; Key Laboratory for Tumor Precision Medicine of Shaanxi Province and Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
  • Ji M; Center for Translational Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China. mjji0409@163.com.
  • Hou P; Key Laboratory for Tumor Precision Medicine of Shaanxi Province and Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China. phou@xjtu.edu.cn.
Cell Death Dis ; 12(8): 765, 2021 08 03.
Article en En | MEDLINE | ID: mdl-34344877

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteoglicanos Tipo Condroitín Sulfato / Neurofibromatosis 1 / Células Germinativas / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Cell Death Dis Año: 2021 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteoglicanos Tipo Condroitín Sulfato / Neurofibromatosis 1 / Células Germinativas / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Cell Death Dis Año: 2021 Tipo del documento: Article País de afiliación: China