Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.

Source: Orphanet Journal of Rare Diseases - November 14, 2019 Category: Internal Medicine Authors: Huakun Shangguan, Chang Su, Qian Ouyang, Bingyan Cao, Jian Wang, Chunxiu Gong and Ruimin Chen Tags: Research Source Type: research