Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.

Wu, Tenghui; Zhang, Ciliu; He, Fang; Yang, Li; Yin, Fei; Peng, Jing

Wu, Tenghui; Zhang, Ciliu; He, Fang; Yang, Li; Yin, Fei; Peng, Jing.

Afiliação

Wu T; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.
Zhang C; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
He F; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.
Yang L; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.
Yin F; Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, China.
Peng J; Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Xiangya Hospital of Central South University, Changsha, China.

Mol Genet Genomic Med ; 11(7): e2162, 2023 07.

Article em En | MEDLINE | ID: mdl-36896673

Assuntos

Distrofias Musculares; Dissomia Uniparental; Humanos; Dissomia Uniparental/genética; Distrofias Musculares/genética; Homozigoto; Heterozigoto; Colina Quinase/genética

Palavras-chave

CHKB; large deletions; megaconial congenital muscular dystrophy; uniparental disomy

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dissomia Uniparental / Distrofias Musculares Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dissomia Uniparental / Distrofias Musculares Idioma: En Ano de publicação: 2023 Tipo de documento: Article