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

scientific article published on 14 August 2019

Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1186/S40792-019-0688-4
P932PMC publication ID6694366
P698PubMed publication ID31414320

P50authorDaisuke MasuiQ90994989
P2093author name stringYoriko Watanabe
Koh-Ichiro Yoshiura
Yoshiaki Tanaka
Minoru Yagi
Suguru Fukahori
Tatsuki Mizuochi
Naoki Hashizume
Nobuyuki Saikusa
Saki Sakamoto
Shinji Ishii
Naruki Higashidate
Kaori Fukui
Aiko Takato
P2860cites workNOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathwayQ24293498
Mutations in the human Jagged1 gene are responsible for Alagille syndromeQ24314702
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1Q24314766
Kabuki syndrome: clinical and molecular characteristicsQ26778099
Atypical causes of cholestasisQ27013650
UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and developmentQ28241669
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsQ34685121
Kabuki make-up syndrome: a reviewQ35057647
Biliary atresia type I cyst and choledochal cyst [corrected]: can we differentiate or not?Q38098455
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).Q38188009
Kabuki syndrome: clinical and molecular diagnosis in the first year of lifeQ38256639
Notch signaling promotes ductular reactions in biliary atresia.Q38688375
Differential Regulation of NOTCH2 and NOTCH3 Contribute to Their Unique Functions in Vascular Smooth Muscle CellsQ40957740
Abnormalities of intrahepatic bile ducts in extrahepatic biliary atresiaQ41771039
STRAP Promotes Stemness of Human Colorectal Cancer via Epigenetic Regulation of the NOTCH PathwayQ47792107
Hepatic fibrosis in Kabuki syndrome.Q51944459
Biliary atresia in Kabuki syndrome.Q52169509
Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.Q52181423
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucityQ57132395
Biliary atresiaQ64043320
Biliary atresia and Kabuki syndrome: another case with long-term follow-upQ73851708
Is it possible to differentiate between choledochal cyst and congenital biliary atresia (type I cyst) by antenatal ultrasonography?Q74045571
Unexpected life-threatening complications in Kabuki syndromeQ74304206
Prenatal ultrasonographic appearance of type IIId (uncorrectable type with cystic dilatation) biliary atresiaQ78471360
The prevalence and associated features of posterior embryotoxon in the general ophthalmic clinicQ80446509
Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidyQ81942614
Histological differentiation between prenatally diagnosed choledochal cyst and type I cystic biliary atresia using liver biopsy specimensQ82862703
Histopathological features and accuracy for diagnosing biliary atresia by prelaparotomy liver biopsy in developing countriesQ83302875
Morphometrical and immunohistochemical study of intrahepatic bile ducts in biliary atresiaQ84414950
P433issue1
P921main subjectbiliary atresiaQ659033
P304page(s)132
P577publication date2019-08-14
P1433published inSurgical case reportsQ27726802
P1476titleCystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report
P478volume5