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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...
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| Publicado no: | Korean J Pediatr |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Pediatric Society
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4623449/ https://ncbi.nlm.nih.gov/pubmed/26512256 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2015.58.9.317 |
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