A novel gene mutation in a Korean patient with Kabuki syndrome

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...

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Bibliographic Details
Main Authors: Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Format: Article
Published: Korean Pediatric Society 2013-08-01
Series:Korean Journal of Pediatrics
Online Access:http://kjp.or.kr/upload/pdf/kjped-56-355.pdf