Harel-Yoon syndrome caused by the c.368G>A variant in the ATAD3A gene: A case report.

Qi, Ruifang; Li, Rongmin; Yang, Wenli; Sang, Yanmei

Qi, Ruifang; Li, Rongmin; Yang, Wenli; Sang, Yanmei.

Afiliação

Qi R; Department of Endocrinology, Baoding Children's Hospital, Baoding, 071000, China.
Li R; Department of Endocrinology, Baoding Children's Hospital, Baoding, 071000, China.
Yang W; Department of Endocrinology and Genetic Metabolism, National Children's Medical Center, Beijing Children's Hospital, Capital Medical University, 100045, Beijing, China.
Sang Y; Department of Endocrinology and Genetic Metabolism, National Children's Medical Center, Beijing Children's Hospital, Capital Medical University, 100045, Beijing, China. Electronic address: sang_ymdoc003@163.com.

Asian J Surg ; 45(3): 914-916, 2022 Mar.

Article em En | MEDLINE | ID: mdl-35012852

Assuntos

Proteínas de Membrana; Proteínas Mitocondriais; ATPases Associadas a Diversas Atividades Celulares/genética; Feminino; Humanos; Lactente; Proteínas de Membrana/genética; Proteínas de Membrana/metabolismo; Proteínas Mitocondriais/genética; Proteínas Mitocondriais/metabolismo; Mutação

Palavras-chave

Adenosine triphosphate family protein 3A (ATAD3A); HarelYoon syndrome; c.368G>A variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Mitocondriais / Proteínas de Membrana Limite: Female / Humans / Infant Idioma: En Revista: Asian J Surg Ano de publicação: 2022 Tipo de documento: Article

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