Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

BACKGROUND: Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In addition, it is difficult to make a molecular diagnosis ra...

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Detalles Bibliográficos
Autores principales: Tang, Hui, Guo, Jing, Linpeng, Siyuan, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377774/
https://www.ncbi.nlm.nih.gov/pubmed/30770747
http://dx.doi.org/10.1186/s13023-019-1022-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377774/
https://www.ncbi.nlm.nih.gov/pubmed/30770747
http://dx.doi.org/10.1186/s13023-019-1022-8

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