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Chong-Kun Cheon (Cheon CK)

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Review Article

Kabuki syndrome: clinical and molecular characteristics

Chong-Kun Cheon, Jung Min Ko

Clin Exp Pediatr. 2015;58(9):317-324. Published online September 21, 2015

Crossref 54

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 uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct...

DOI: https://doi.org/10.3345/kjp.2015.58.9.317

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