Shuolin Li Jing Liu Yuan Yuan Aizhen Lu Fang Liu Li Sun Quanli Shen Libo Wang
10.3389/fped.2022.933693
Front Pediatr
2022 Aug 26;10:933693.
goodpasture’s syndrome kmt2d gene kabuki syndrome missense variant whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36090579/
Case Reports
PMC9459111
36090579
Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing
2022