Kabuki syndrome: Clinical and molecular diagnosis in the first year of life

Archives of Disease in Childhood

Volumn 100, Issue 2, 2015, Pages 158-164

  Dentici, Maria Lisa ^a   Di Pede, Alessandra ^a   Lepri, Francesca Romana ^a   Gnazzo, Maria ^a   Lombardi, Mary Haywood ^a   Auriti, Cinzia ^a   Petrocchi, Stefano ^a   Pisaneschi, Elisa ^a   Bellacchio, Emanuele ^a   Capolino, Rossella ^a   Braguglia, Annabella ^a   Angioni, Adriano ^a   Dotta, Andrea ^a   Digilio, Maria Cristina ^a   Dallapiccola, Bruno ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANORECTAL MALFORMATION; BIRTH LENGTH; BIRTH WEIGHT; BRACHYDACTYLY; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; FACE DYSMORPHIA; FACIES; FEEDING DIFFICULTY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; HUMAN; HYDRAMNIOS; HYPERTRICHOSIS; INFANT; JOINT LAXITY; KABUKI MAKEUP SYNDROME; KDM6A GENE; KIDNEY MALFORMATION; KMT2D GENE; MALE; MLL2 GENE; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; NAIL DYSPLASIA; NEWBORN; PARAMETERS CONCERNING THE FETUS, NEWBORN AND PREGNANCY; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; SANGER SEQUENCING; SKELETON MALFORMATION; ABNORMALITIES, MULTIPLE; CONGENITAL MALFORMATION; FACE; GENETICS; HEMATOLOGIC DISEASES; MUTATION; VESTIBULAR DISEASES;

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

ABNORMALITIES, MULTIPLE; DNA-BINDING PROTEINS; FACE; FEMALE; HEMATOLOGIC DISEASES; HISTONE DEMETHYLASES; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; VESTIBULAR DISEASES;

EID: 84921445011     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2013-305858     Document Type: Review

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