Kabuki syndrome: A Chinese case series and systematic review of the spectrum of mutations

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Liu, Shuang ^a   Hong, Xiafei ^b   Shen, Cheng ^b   Shi, Quan ^c   Wang, Jian ^b   Xiong, Feng ^d   Qiu, Zhengqing ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b PEKING UNION MEDICAL COLLEGE   (China)

^c BGI research ^*  (China)

^d CHILDREN S HOSPITAL OF CHONGQING MEDICAL UNIVERSITY   (China)

Author keywords

Chinese; Dandy Walker syndrome; Kabuki syndrome; KMT2D; Series; Spinal bifida

Indexed keywords

ARTICLE; CHINA; CHINESE; DANDY WALKER SYNDROME; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INDEL MUTATION; KABUKI MAKEUP SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; RETROSPECTIVE STUDY; SPINAL DYSRAPHISM; SYSTEMATIC REVIEW; ASIAN CONTINENTAL ANCESTRY GROUP; CASE REPORT; CHILD; CONGENITAL MALFORMATION; FACE; FEMALE; GENETICS; HEMATOLOGIC DISEASE; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; VESTIBULAR DISORDER;

DNA BINDING PROTEIN; MLL2 PROTEIN, HUMAN; TUMOR PROTEIN;

ABNORMALITIES, MULTIPLE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; FACE; FEMALE; HEMATOLOGIC DISEASES; HUMANS; INFANT; MALE; MUTATION; NEOPLASM PROTEINS; VESTIBULAR DISEASES;

EID: 84929338507     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0171-4     Document Type: Article

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