Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

Abstract Objective This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. Methods Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if...

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Bibliographic Details
Main Authors: Huakun Shangguan, Chang Su, Qian Ouyang, Bingyan Cao, Jian Wang, Chunxiu Gong, Ruimin Chen
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Kabuki syndrome
KMT2D
KDM6A
Chinese patients
Brain abnormalities
Online Access:http://link.springer.com/article/10.1186/s13023-019-1219-x

Internet

http://link.springer.com/article/10.1186/s13023-019-1219-x

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