- Case Report
- A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
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Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
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Clin Exp Pediatr. 2013;56(8):355-358. Published online August 27, 2013
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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... |
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- Correspondence
- Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
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Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin
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Clin Exp Pediatr. 2013;56(3):143-143. Published online March 18, 2013
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- Original Article
- Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
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Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin
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Clin Exp Pediatr. 2012;55(11):430-437. Published online November 23, 2012
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Purpose Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for... |
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