A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome

Background: Cornelia de Lange syndrome (CdLS) is a genetic syndrome characterized by intellectual disability, special facial features, growth retardation, feeding difficulties, and multiple organ system abnormalities. NIPBL variants occur in approximately 80% of CdLS cases. Aims: We report a novel d...

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Detalles Bibliográficos
Autores principales: Chen, Yonghua, Chen, Qingqing, Yuan, Ke, Zhu, Jianfang, Fang, Yanlan, Yan, Qingfeng, Wang, Chunlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140414/
https://www.ncbi.nlm.nih.gov/pubmed/35627125
http://dx.doi.org/10.3390/genes13050740

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