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A novel MLL2 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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764261/ https://www.ncbi.nlm.nih.gov/pubmed/24019847 http://dx.doi.org/10.3345/kjp.2013.56.8.355 |