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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Bibliographic Details
Main Authors: Chong-Kun Cheon (Author), Jung Min Ko (Author)
Format: Book
Published: Korean Pediatric Society, 2015-09-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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