Macular atrophy in JAG1-related Alagille syndrome: a case series
Author:
Affiliation:
1. Department of Ophthalmology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA
2. Division of Pediatric Ophthalmology, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA
Funder
NIH/NEI
Department of Ophthalmology, the Eye and Ear Foundation of Pittsburgh
Research to Prevent Blindness, New York, NY
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.2004432
Reference16 articles.
1. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
2. Arteriohepatic Dysplasia: A Benign Syndrome of Intrahepatic Cholestasis with Multiple Organ Involvement
3. JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome
4. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
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