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

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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Bibliographic Details
Main Authors: Fengchang Qiao, Cuiping Zhang, Yan Wang, Gang Liu, Binbin Shao, Ping Hu, Zhengfeng Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Genetics
Subjects:
Cornelia de Lange syndrome
whole-exome sequencing
NIPBL
splicing mutation
prenatal diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.628890/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.628890/full

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