A novel MLL2 gene mutation in a korean patient with kabuki syndrome

Korean Journal of Pediatrics

Volumn 56, Issue 8, 2013, Pages 355-358

  Kim, Soo Jin ^a   Cho, Sung Yoon ^a   Maeng, Se Hyun ^a   Sohn, Young Bae ^b   Kim, Su Jin ^c   Ki, Chang Seok ^a   Jin, Dong Kyu ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Ajou University School of Medicine   (South Korea)

^c Kwandong University College of Medicine   (South Korea)

Author keywords

Kabuki syndrome; Kdm6; Ks associated genes; Mll2 mutation

Indexed keywords

ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; ECHOCARDIOGRAPHY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GROWTH RETARDATION; HUMAN; KABUKI MAKEUP SYNDROME; MALE; MLL2 GENE; MUTATIONAL ANALYSIS; OTITIS MEDIA; PALPEBRAL FISSURE; RECURRENT DISEASE; SCHOOL CHILD; SKELETON MALFORMATION; X RAY ANALYSIS;

EID: 84881659315     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2013.56.8.355     Document Type: Article

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