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The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.
Lu, Zhikun; Zhang, Wen; Mao, Xiaojian; Li, Duan; Chen, Xiaodan; Liu, Li; Lin, Yunting.
Afiliação
  • Lu Z; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
  • Zhang W; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
  • Mao X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
  • Li D; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
  • Chen X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
  • Liu L; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
  • Lin Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.
Clin Genet ; 105(2): 209-213, 2024 02.
Article em En | MEDLINE | ID: mdl-37867468
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteínas de Membrana Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteínas de Membrana Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China