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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2015-09-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-58-317.pdf |