Infrequent manifestations of kabuki syndrome in a patient with novel MLL2 mutation

Molecular Syndromology

Volumn 3, Issue 4, 2012, Pages 180-184

  Zarate, Y A ^a   Zhan, H ^a   Jones, J R ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

Diaphragmatic hernia; Hypoglycemia; Kabuki syndrome; MLL2

Indexed keywords

CALCIUM; DIAZOXIDE; GLUCOSE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DYSPHAGIA; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPOGLYCEMIA; INFANT; KABUKI MAKEUP SYNDROME; LARYNGOSCOPY; MLL2 GENE; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOMACH TUBE; THORAX RADIOGRAPHY;

EID: 84868015437     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000342253     Document Type: Article

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