Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report

Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report

Abstract Background Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and g...

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Bibliographic Details
Main Authors: Si-Xiu Li, Leiting Chen, Chen Deng, Dongmei Tang, Jing Zhang, Wen-Guang Hu, Yu Hu, Hua Lai, Xiao Yang
Format: Article
Language:English
Published: BMC 2024-12-01
Series:BMC Pregnancy and Childbirth
Subjects:
Prenatal diagnosis
Variants of uncertain significance
Molecular effects
Gene expression
CPLANE1 gene
Joubert syndrome
Online Access:https://doi.org/10.1186/s12884-024-07052-3
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https://doi.org/10.1186/s12884-024-07052-3

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