Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by a wide spectrum of abnormalities, including craniofacial dysmorphism, upper limb anomalies, pre- and post-natal growth restrictions, hirsutism and intellectual disability. Approximately 60% of cases are caused...

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Detalles Bibliográficos
Autores principales: Qiao, Fengchang, Zhang, Cuiping, Wang, Yan, Liu, Gang, Shao, Binbin, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900548/
https://www.ncbi.nlm.nih.gov/pubmed/33633789
http://dx.doi.org/10.3389/fgene.2021.628890

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7900548/
https://www.ncbi.nlm.nih.gov/pubmed/33633789
http://dx.doi.org/10.3389/fgene.2021.628890

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