Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7.

Wu, Zhi-Feng; Lv, Kui-Lin; Yao, Si-Qi; Li, Zhi; Cheng, Wang; Zhang, Si; Long, Xin-Hai; Guo, Hong; Zhang, Yu-Ping

Wu, Zhi-Feng; Lv, Kui-Lin; Yao, Si-Qi; Li, Zhi; Cheng, Wang; Zhang, Si; Long, Xin-Hai; Guo, Hong; Zhang, Yu-Ping.

Afiliação

Wu ZF; Department of Pediatrics, Second Affiliated Hospital of Army Medical University, Chongqing, China.
Lv KL; Department of Pediatrics, Second Affiliated Hospital of Army Medical University, Chongqing, China.
Yao SQ; Department of Pediatrics, Second Affiliated Hospital of Army Medical University, Chongqing, China.
Li Z; Department of Pediatrics, Second Affiliated Hospital of Army Medical University, Chongqing, China.
Cheng W; Department of Pediatrics, Second Affiliated Hospital of Army Medical University, Chongqing, China.
Zhang S; Department of Radiology, Xinqiao Hospital, Army Medical University, Chongqing, China.
Long XH; COYOTE Medical Laboratory, Beijing, China.
Guo H; Department of Genetics, Basic Medical College, Army Medical University, Chongqing, China.
Zhang YP; Department of Pediatrics, Second Affiliated Hospital of Army Medical University, Chongqing, China.

Am J Med Genet A ; 194(1): 46-52, 2024 Jan.

Article em En | MEDLINE | ID: mdl-37608778

Assuntos

Doenças Cerebelares; Deficiência Intelectual; Humanos; Masculino; Feminino; Mutação; Deficiência Intelectual/genética; China; Linhagem; Proteínas Nucleares/genética

Palavras-chave

TOE1; neurodevelopmental disorders; novel compound variant; phenotypic; pontocerebellar hypoplasia; whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Ano de publicação: 2024 Tipo de documento: Article

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