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Kabuki syndrome: clinical and molecular characteristics
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncover...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Korean Pediatric Society
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623449/ https://www.ncbi.nlm.nih.gov/pubmed/26512256 http://dx.doi.org/10.3345/kjp.2015.58.9.317 |