Unexpected life-threatening complications in Kabuki syndrome

scientific article published on 01 September 2000

Unexpected life-threatening complications in Kabuki syndrome is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/1096-8628(20000911)94:2<170::AID-AJMG10>3.0.CO;2-2
P698PubMed publication ID10982974

P2093author name stringP J Willems
M W Wessels
J C de Jongste
D Tibboel
M F Niermeijer
J C den Hollander
A S Brooks
J Hoogeboom
M M van Haelst
J J Bongers-Schokking
P2860cites workCoarctation of the aorta in Kabuki syndromeQ24515408
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiencyQ34057213
A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardationQ34283519
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsQ34685121
Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive managementQ41926163
Biliary atresia: pathogenesis and treatmentQ44995363
Phenotypic spectrum and management issues in Kabuki syndrome.Q51985916
The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black.Q53885108
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patientsQ59829235
Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndromeQ69768840
Inheritance of Niikawa-Kuroki (Kabuki makeup) syndromeQ71949923
Dominant inheritance of Kabuki make-up syndromeQ73893354
Interstitial Dup(1p) with findings of Kabuki make-up syndromeQ74689345
P433issue2
P921main subjectKabuki syndromeQ1538227
P304page(s)170-173
P577publication date2000-09-01
P1433published inAmerican Journal of Medical Genetics Part AQ15755121
P1476titleUnexpected life-threatening complications in Kabuki syndrome
P478volume94

Reverse relations

cites work (P2860)
Q61799956Cancer gene mutations in congenital pulmonary airway malformation patients
Q92631061Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report
Q36425821Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation
Q51937089Kabuki make-up syndrome.
Q44519452Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Q57118417Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand

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