Sonoko Sakata Satoshi Okada Kohei Aoyama Keiichi Hara Chihiro Tani Reiko Kagawa Akari Utsunomiya-Nakamura Shinichiro Miyagawa Tsutomu Ogata Haruo Mizuno Masao Kobayashi
10.3389/fgene.2017.00210
Front Genet
2017 Dec 11;8:210.
charge syndrome chd7 kmt2d kabuki syndrome phenotypic overlap
CC BY
https://pubmed.ncbi.nlm.nih.gov/29321794/
PMC5732153
29321794
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
2017