Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study

• Main Authors: Yirou Wang (Author), Yufei Xu (Author), Yao Chen (Author), Yabin Hu (Author), Qun Li (Author), Shijian Liu (Author), Jian Wang (Author), Xiumin Wang (Author)
• Format: Book
• Published: BMC, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, (KDM6A, MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%-8% of...