Open AccessIntegrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome
Author(s) -
Weihui Shi,
Yiyao Chen,
Songchang Chen,
Shuyuan Li,
Chengkang Chang,
Lanlan Zhang,
Hongjun Fei,
Hefeng Huang,
Junyu Zhang,
Chenming Xu
Publication year - 2018
Publication title -
journal of bio-x research/journal of bio-x research
Language(s) - English
Resource type - Journals
eISSN - 2096-5672
pISSN - 2577-3585
DOI - 10.1097/jbr.0000000000000022
Subject(s) - kabuki syndrome , haploinsufficiency , sanger sequencing , facial dysmorphism , genetics , genetic counseling , nonsense , exome sequencing , medicine , sibling , phenotype , biology , dna sequencing , bioinformatics , gene , psychology , developmental psychology