Alagille Syndrome
Embryology - 18 Apr 2024 Expand to Translate |
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Introduction
Alagille syndrome is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 on chromosome 20p12. Jagged-1 is a receptor in the Notch signalling pathway.
Named after Daniel Alagille (1925 - 2005) a French physician who specialized in pediatric hepatology, the study of childhood liver diseases.
Some Recent Findings
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References
- ↑ <pubmed>22792262</pubmed>
Reviews
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Articles
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Search PubMed
Search Pubmed: Williams Syndrome | GTF2IRD1
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- Genetics Home Reference Williams Syndrome
- National Institute of Diabetes and Digestive and Kidney Diseases Alagille Syndrome
- OMIM OMIM118450
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Cite this page: Hill, M.A. (2024, April 18) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Alagille_Syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G