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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| 格式: | 图书 |
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Korean Pediatric Society,
2015-09-01T00:00:00Z.
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| 索引号: |
A1234.567 |
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