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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin

Clin Exp Pediatr. 2013;56(8):355-358. Published online August 27, 2013

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 have been tested, suggesting that there may be additional genes associated with KS. Recently, a few...

DOI: https://doi.org/10.3345/kjp.2013.56.8.355

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