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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| Main Authors: | , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2015-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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