An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3282-3288

  Bögershausen, Nina ^a   Altunoglu, Umut ^b   Beleggia, Filippo ^c   Yigit, Gökhan ^a   Kayserili, Hülya ^d   Nürnberg, Peter ^e   Li, Yun ^a   Altmüller, Janine ^e,f   Wollnik, Bernd ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b ISTANBUL UNIVERSITY   (Turkey)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d KOÇ UNIVERSITY   (Turkey)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

Author keywords

bile duct paucity; cholestasis; cyst; Kabuki syndrome; KMT2D; microphthalmia; notch signaling; vascular malformation; venous lymphatic malformation

Indexed keywords

ADOLESCENT; ARTICLE; BILE DUCT DISEASE; BILE DUCT PAUCITY; BLOOD CLOTTING DISORDER; CASE REPORT; CHOLESTASIS; ECHOGRAPHY; EXON; GENE; GENE MUTATION; HEPATITIS; HUMAN; HUMAN TISSUE; HYPERBILIRUBINEMIA; HYPERCALCIURIA; JAUNDICE; KABUKI MAKEUP SYNDROME; KMT2D GENE; LIVER BIOPSY; MALE; MICROPHTHALMIA; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; ORBIT CYST; PRIORITY JOURNAL; SYMPTOM; ABNORMALITIES; ABNORMALITIES, MULTIPLE; BILE DUCT; CONSANGUINITY; EXOME; FACE; FACIES; GENOTYPE; HEMATOLOGIC DISEASES; HIGH THROUGHPUT SEQUENCING; MICROPHTHALMOS; PHENOTYPE; PHYSICAL EXAMINATION; PROCEDURES; QUANTITATIVE TRAIT LOCUS; VESTIBULAR DISEASES;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BILE DUCTS; CHOLESTASIS; CONSANGUINITY; EXOME; FACE; FACIES; GENOTYPE; HEMATOLOGIC DISEASES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROPHTHALMOS; PHENOTYPE; PHYSICAL EXAMINATION; QUANTITATIVE TRAIT LOCI; VESTIBULAR DISEASES;

EID: 84995739983     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37931     Document Type: Article

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