Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis

Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis

Abstract Background Short‐rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either syndrome can manifest cerebellar malformation and variable developmental delays. However, neither of these conditions is easily diagnosed during pregnancy due...

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Bibliographic Details
Main Authors: Qianying Zhao, Bocheng Xu, Qinqin Xiang, Yu Tan, Hanbing Xie, Qianqian Gao, Lingyi Wen, He Wang, Mei Yang, Shanling Liu
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
Joubert syndrome
KIAA0586
prenatal diagnosis
short‐rib thoracic dysplasia
splicing variants
Online Access:https://doi.org/10.1002/mgg3.2124

Internet

https://doi.org/10.1002/mgg3.2124

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