Unmasking Kabuki syndrome

Clinical Genetics

Volumn 83, Issue 3, 2013, Pages 201-211

  Bogershausen N ^a   Wollnik, B ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Kabuki syndrome; KMT2D; MLL2; Review

Indexed keywords

ACUTE LYMPHOBLASTIC LEUKEMIA; ALLELE; ANEUPLOIDY; AORTA COARCTATION; AUDIOMETRY; AUTISM; BILE DUCT ATRESIA; BODY MASS; BRACHYDACTYLY; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; BURKITT LYMPHOMA; CHROMOSOME 12; CHROMOSOME 5; CHROMOSOME REARRANGEMENT; CLEFT LIP PALATE; CLINODACTYLY; COLOBOMA; COMMON VARIABLE IMMUNODEFICIENCY; CONDUCTION DEAFNESS; COPY NUMBER VARIATION; CRANIOFACIAL SYNOSTOSIS; CRYPTORCHISM; DIABETES INSIPIDUS; DIFFERENTIAL DIAGNOSIS; ECTROPION; EPILEPSY; EXOME; EXON; FACIES; FAILURE TO THRIVE; FEEDING DISORDER; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GASTROESOPHAGEAL REFLUX; GENE; GENE DELETION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE DEFICIENCY; HAPLOINSUFFICIENCY; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HEMOLYTIC ANEMIA; HEPATOBLASTOMA; HEPATOMEGALY; HIP DISLOCATION; HUMAN; HYDRONEPHROSIS; HYPERINSULINISM; HYPERTRANSAMINASEMIA; HYPODONTIA; HYPOSPADIAS; HYPOTHYROIDISM; IDIOPATHIC THROMBOCYTOPENIC PURPURA; INTELLECTUAL IMPAIRMENT; KABUKI MAKEUP SYNDROME; KDM6A GENE; KMT2D GENE; LIVER FIBROSIS; MEDULLOBLASTOMA; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOSAICISM; MUSCLE HYPOTONIA; NONHODGKIN LYMPHOMA; NONHUMAN; NUCLEOTIDE SEQUENCE; OTITIS MEDIA; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; POINT MUTATION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PROGNATHIA; PSYCHOMOTOR DEVELOPMENT; PTOSIS; RECURRENT INFECTION; REVIEW; RIB MALFORMATION; SCLEROSING CHOLANGITIS; SCOLIOSIS; SHORT STATURE; SOCIALIZATION; STRABISMUS; SYNOVIAL SARCOMA; TRANSCRIPTION INITIATION; TURNER SYNDROME; VERTEBRA MALFORMATION; VESTIBULAR TEST; VITILIGO;

ABNORMALITIES, MULTIPLE; DNA-BINDING PROTEINS; FACE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC DISEASES; HUMANS; MUTATION; NEOPLASM PROTEINS; SYNDROME; VESTIBULAR DISEASES;

EID: 84874017593     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12051     Document Type: Review

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