Alagille syndrome with unusual common bile duct hypoplasia and gallbladder dysmorphism: Lesson based on a case report
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Published:2024-09
Issue:9
Volume:19
Page:4082-4086
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ISSN:1930-0433
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Container-title:Radiology Case Reports
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language:en
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Short-container-title:Radiology Case Reports
Author:
Farina RenatoORCID,
Garofalo AlfredoORCID,
Valerio Foti Pietro,
Inì CorradoORCID,
Motta ClaudiaORCID,
Galioto Sebastiano,
Clemenza Mariangela,
Ilardi Adriana,
Gavazzi Livio,
Grippaldi Daniele,
D'Urso Mattia,
Basile Antonio
Reference14 articles.
1. Alagille syndrome;Mitchell;Clin Liver Dis,2018
2. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur;Alagille;J Pediatr,1975
3. Clinical utility gene card for: Alagille Syndrome (ALGS);Leonard;Eur J Hum Genet,2014
4. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1;Li;Nat Genet,1997
5. Alagille syndrome mutation update: comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification;Gilbert;Hum Mutat,2019