Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome

Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients. Herein, we report the case of a patient with CdLS showing distinctive facial features, microcephaly,...

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Detalles Bibliográficos
Autores principales: Shi, Meizhen, Liang, Yuying, Xie, Bobo, Wei, Xianda, Zheng, Haiyang, Gui, Chunrong, Huang, Rong, Fan, Xin, Li, Chuan, Wei, Xiaojiao, Ma, Yunting, Chen, Shaoke, Chen, Yujun, Gui, Baoheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9726764/
https://www.ncbi.nlm.nih.gov/pubmed/36506332
http://dx.doi.org/10.3389/fgene.2022.1056127

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