The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

Lin, Yunting; Zhang, Wen; Li, Duan; Chen, Xiaodan; Lu, Zhikun; Li, Xiaojing; Li, Xiuzhen

Lin, Yunting; Zhang, Wen; Li, Duan; Chen, Xiaodan; Lu, Zhikun; Li, Xiaojing; Li, Xiuzhen.

Afiliação

Lin Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Zhang W; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li D; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Chen X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Lu Z; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li X; Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Clin Genet ; 102(3): 246-247, 2022 09.

Article em En | MEDLINE | ID: mdl-35754111

Assuntos

Homozigoto; China; Heterozigoto; Humanos; Mutação; Linhagem; Sequenciamento do Exoma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Homozigoto Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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