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

Lignende værker

• Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole‐exome sequencing
  af: Zhou, Xiaoyan, et al.
  Udgivet: (2020)
• A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
  af: Qiao, Fengchang, et al.
  Udgivet: (2019)
• NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
  af: Borck, G, et al.
  Udgivet: (2004)
• Whole genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
  af: Duvdevani, Morasha Plesser, et al.
  Udgivet: (2020)
• Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
  af: Park, Kyung-Hee, et al.
  Udgivet: (2010)