A novel gene mutation in a Korean patient with Kabuki syndrome

• Main Authors: Soo Jin Kim (Author), Sung Yoon Cho (Author), Se Hyun Maeng (Author), Young Bae Sohn (Author), Su-Jin Kim (Author), Chang-Seok Ki (Author), Dong-Kyu Jin (Author)
• Format: Book
• Published: Korean Pediatric Society, 2013-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who ha...