Individual clinically diagnosed with CHARGE syndrome but with a mutation in KMT2D, a gene associated with Kabuki syndrome: A case report

Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Masao Kobayashi

研究成果: Article査読

10 被引用数 (Scopus)

フィンガープリント 「Individual clinically diagnosed with CHARGE syndrome but with a mutation in KMT2D, a gene associated with Kabuki syndrome: A case report」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

Medicine & Life Sciences