Kabuki syndrome: Expanding the phenotype to include microphthalmia and anophthalmia

Clinical Dysmorphology

Volumn 24, Issue 4, 2015, Pages 135-139

  McVeigh, Terri P ^a   Banka, Siddharth ^b,c   Reardon, William ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c St Mary's University Hospital   (United Kingdom)

Author keywords

anophthalmia; Kabuki syndrome; KDM6A; KMT2D; microphthalmia; MLL2; WAR complex

Indexed keywords

ABSENCE; ANOPHTHALMIA; AORTA COARCTATION; AORTA DISEASE; AORTIC ARCH HYPOPLASIA; APGAR SCORE; ARTICLE; BIRTH WEIGHT; BRADYCARDIA; CASE REPORT; CHILD; CHOLELITHIASIS; CLEFT PALATE; CONGENITAL DIAPHRAGM HERNIA; ECTROPION; FACIES; GENE; GENE IDENTIFICATION; GERMLINE MUTATION; HUMAN; IRISH (CITIZEN); KABUKI MAKEUP SYNDROME; KIDNEY DUPLICATION; MALE; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PHENOTYPE; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; WAARDENBURG SYNDROME; ABNORMALITIES, MULTIPLE; ANOPHTHALMOS; CONGENITAL MALFORMATION; FACE; GENETICS; HEMATOLOGIC DISEASES; MICROPHTHALMOS; PRESCHOOL CHILD; VESTIBULAR DISEASES;

CARRIER PROTEIN; DNA BINDING PROTEIN; HISTONE DEMETHYLASE; MLL2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PAXIP1 PROTEIN, HUMAN; TUMOR PROTEIN; UTX PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ANOPHTHALMOS; CARRIER PROTEINS; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; FACE; HEMATOLOGIC DISEASES; HISTONE DEMETHYLASES; HUMANS; MALE; MICROPHTHALMOS; NEOPLASM PROTEINS; NUCLEAR PROTEINS; VESTIBULAR DISEASES;

EID: 84941795933     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0000000000000092     Document Type: Article

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