Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing

• প্রধান লেখক: Shuolin Li (Author), Jing Liu (Author), Yuan Yuan (Author), Aizhen Lu (Author), Fang Liu (Author), Li Sun (Author), Quanli Shen (Author), Libo Wang (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this...