A novel homozygous <i>HES7</i> splicing variant causing spondylocostal dysostosis 4: a case report.

Lv, Shaoguang; Wu, Yuanyuan; Liu, Fang; Jiao, Baoquan

A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report.

Lv, Shaoguang; Wu, Yuanyuan; Liu, Fang; Jiao, Baoquan.

Afiliação

Lv S; Department of Pediatrics, Bethune International Peace Hospital, Shijiazhuang, China.
Wu Y; Department of Reproduction and Genetics, Bethune International Peace Hospital, Shijiazhuang, China.
Liu F; Department of Pediatrics, Bethune International Peace Hospital, Shijiazhuang, China.
Jiao B; Department of Reproduction and Genetics, Bethune International Peace Hospital, Shijiazhuang, China.

Front Pediatr ; 11: 1201999, 2023.

Article em En | MEDLINE | ID: mdl-37691774

Palavras-chave

HES7 gene; alternative splicing mutation; case report; minigene analysis; spondylocostal dysostosis 4 (SCDO4)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Pediatr Ano de publicação: 2023 Tipo de documento: Article

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