Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome

BACKGROUND: Alagille syndrome (ALGS) is an autosomal dominant disease caused by JAG1 or NOTCH2 mutation. It is diagnosed by the presence of three out of five features: characteristic facies, posterior embryotoxon, peripheral pulmonary stenosis, vertebral defects, and interlobular bile duct paucity....

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Detalles Bibliográficos
Autores principales: Isa, Hasan M., Alahmed, Fawzeya A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10410416/
https://www.ncbi.nlm.nih.gov/pubmed/37564457
http://dx.doi.org/10.4103/abr.abr_201_22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10410416/
https://www.ncbi.nlm.nih.gov/pubmed/37564457
http://dx.doi.org/10.4103/abr.abr_201_22

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