A novel frameshift mutation in Allan-Herndon-Dudley syndrome.

Liu, Zihao; Zhao, Shuquan; Chen, Jianyi; Ma, Longda; Shi, Qing; Zhou, Yiwu

Liu, Zihao; Zhao, Shuquan; Chen, Jianyi; Ma, Longda; Shi, Qing; Zhou, Yiwu.

Afiliação

Liu Z; Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China.
Zhao S; Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China.
Chen J; Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China.
Ma L; Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China.
Shi Q; Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China.
Zhou Y; Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China. zhouyiwu@outlook.com.

Int J Legal Med ; 136(4): 1181-1187, 2022 Jul.

Article em En | MEDLINE | ID: mdl-35391604

Assuntos

Deficiência Intelectual Ligada ao Cromossomo X; Simportadores; Criança; Pré-Escolar; Mutação da Fase de Leitura; Humanos; Masculino; Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico; Deficiência Intelectual Ligada ao Cromossomo X/genética; Transportadores de Ácidos Monocarboxílicos/genética; Hipotonia Muscular; Atrofia Muscular; Mutação; Simportadores/genética

Palavras-chave

Allan-Herndon-Dudley syndrome; Forensic pathology; Monocarboxylate transporter 8; Myelination; SLC16A2 gene

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Simportadores / Deficiência Intelectual Ligada ao Cromossomo X Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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