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

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: Meizhen Shi, Yuying Liang, Bobo Xie, Xianda Wei, Haiyang Zheng, Chunrong Gui, Rong Huang, Xin Fan, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Yujun Chen, Baoheng Gui
Formato: Artículo
Lenguaje:English
Publicado: Frontiers Media S.A. 2022-11-01
Colección:Frontiers in Genetics
Materias:
NIPBL
synonymous variant
non-canonical splice donor
whole-exome sequencing
cornelia de lange syndrome
Acceso en línea:https://www.frontiersin.org/articles/10.3389/fgene.2022.1056127/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.1056127/full

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