Kabuki syndrome: Clinical and molecular characteristics

Korean Journal of Pediatrics

Volumn 58, Issue 9, 2015, Pages 317-324

  Cheon, Chong Kun ^a   Ko, Jung Min ^b  

^a Pusan National University School of Medicine   (South Korea)

^b Seoul National University College of Medicine   (South Korea)

Author keywords

Congenital abnormalities; Kabuki syndrome; KDM6A; KMT2D; Whole exome sequencing

Indexed keywords

HISTONE LYSINE METHYLTRANSFERASE;

ARTICLE; BODY WEIGHT; COLOBOMA; ENDOCRINE DISEASE; EXOME; GASTROINTESTINAL DISEASE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; KABUKI MAKEUP SYNDROME; KTM2D GENE; MENTAL DEFICIENCY; OTITIS MEDIA; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PTOSIS; SCIMITAR SYNDROME; SKIN DISEASE; STRABISMUS; UROGENITAL TRACT DISEASE;

EID: 84941561605     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2015.58.9.317     Document Type: Article

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