Literature DB >> 10982974

Unexpected life-threatening complications in Kabuki syndrome.

M M van Haelst1, A S Brooks, J Hoogeboom, M W Wessels, D Tibboel, J C de Jongste, J C den Hollander, J J Bongers-Schokking, M F Niermeijer, P J Willems.   

Abstract

Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID： 10982974     DOI： 10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Kabuki make-up syndrome.

Authors:  M L Kulkarni; Sudarshan K Shetty; V K Chandrasekar; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2004-09       Impact factor: 1.967

2.  Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

Authors:  Tassos Grammatikopoulos; Melissa Sambrotta; Sandra Strautnieks; Pierre Foskett; A S Knisely; Bart Wagner; Maesha Deheragoda; Chris Starling; Giorgina Mieli-Vergani; Joshua Smith; Laura Bull; Richard J Thompson
Journal:  J Hepatol       Date:  2016-07-25       Impact factor: 25.083

3.  Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.

Authors:  Y A Zarate; H Zhan; J R Jones
Journal:  Mol Syndromol       Date:  2012-08-30

4.  Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.

Authors:  Surasak Sangkhathat; Wison Laochareonsuk; Wanwisa Maneechay; Kanita Kayasut; Piyawan Chiengkriwate
Journal:  J Pediatr Genet       Date:  2018-02-16

5.  Cancer gene mutations in congenital pulmonary airway malformation patients.

Authors:  Jacob Shujui Hsu; Ruizhong Zhang; Fanny Yeung; Clara S M Tang; John K L Wong; Man-Ting So; Huimin Xia; Pak Sham; Paul K Tam; Miaoxin Li; Kenneth K Y Wong; Maria-Mercè Garcia-Barcelo
Journal:  ERJ Open Res       Date:  2019-02-04

6.  Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report.

Authors:  Daisuke Masui; Suguru Fukahori; Tatsuki Mizuochi; Yoriko Watanabe; Kaori Fukui; Shinji Ishii; Nobuyuki Saikusa; Naoki Hashizume; Naruki Higashidate; Saki Sakamoto; Aiko Takato; Koh-Ichiro Yoshiura; Yoshiaki Tanaka; Minoru Yagi
Journal:  Surg Case Rep       Date:  2019-08-14
  6 in total

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