Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome

Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome

Abstract. Kabuki syndrome (KS) is a rare congenital mental retardation condition characterized by facial dysmorphia, visceral and skeletal malformations, and developmental delay. The integrated phenotype and genotype-based prioritization is critical for diagnoses of genetic diseases. In this study,...

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Bibliographic Details
Main Authors: Weihui Shi, Yiyao Chen, Songchang Chen, Shuyuan Li, Chunxin Chang, Lanlan Zhang, Hongjun Fei, Hefeng Huang, Junyu Zhang, Chenming Xu
Format: Article
Language:English
Published: Wolters Kluwer Health 2018-12-01
Series:Journal of Bio-X Research
Online Access:http://journals.lww.com/10.1097/JBR.0000000000000022

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http://journals.lww.com/10.1097/JBR.0000000000000022

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