Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

BMC Ophthalmology

Volumn 14, Issue 1, 2014, Pages

  Chen, Yi Hsing ^a,b   Sun, Ming Hui ^a,b   Hsia, Shao Hsuan ^a   Lai, Chi Chun ^a,b   Wu, Wei Chi ^a,b  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

Author keywords

Colobomatous microphthalmia; Kabuki syndrome; MLL2 gene mutation; Optic disc dysplasia

Indexed keywords

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

ABNORMALITIES, MULTIPLE; CASE REPORT; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; FACE; GENETICS; HEMATOLOGIC DISEASES; HUMAN; MALE; MICROPHTHALMOS; MUTATION; OPTIC DISK; PRESCHOOL CHILD; VESTIBULAR DISEASES;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; COLOBOMA; DNA-BINDING PROTEINS; FACE; HEMATOLOGIC DISEASES; HUMANS; MALE; MICROPHTHALMOS; MUTATION; NEOPLASM PROTEINS; OPTIC DISK; TOMOGRAPHY, X-RAY COMPUTED; VESTIBULAR DISEASES;

EID: 84964314661     PISSN: None     EISSN: 14712415     Source Type: Journal    
DOI: 10.1186/1471-2415-14-143     Document Type: Article

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