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Alagille Syndrome: Difference between revisions
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'''Alagylle syndrom''' is a multisystemic disease autosomal dominant, with variable expression | '''Alagylle syndrom''' is a multisystemic disease autosomal dominant, with variable expression | ||
<ref>http://www.scielo.org.ar/pdf/aap/v110n6/v110n6a09.pdf</ref><ref>http://jmg.bmj.com/content/34/2/152.long</ref> | <ref>http://www.scielo.org.ar/pdf/aap/v110n6/v110n6a09.pdf</ref><ref>http://jmg.bmj.com/content/34/2/152.long</ref>; with abnormalities of the liver, heart, eye, skeleton and a characteristic facial appearance | ||
{{disease|Q44.7|Allagille syndrome}} | {{disease|Q44.7|Allagille syndrome}} | ||
==Links== | ==Links== | ||
Revision as of 18:33, 23 July 2015
Alagylle syndrom is a multisystemic disease autosomal dominant, with variable expression [1][2]; with abnormalities of the liver, heart, eye, skeleton and a characteristic facial appearance
Disease classification WHO
Q44.7 Allagille syndrome
Links
- Liver mass containing normal bile ducts in an Alagille patient: A case report
- Li L, Dong J, Wang X, Guo H, Wang H,Zhao J, et al. (2015) JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. PLoS ONE 10(6): e0130355. doi:10.1371/journal.pone.0130355 open access full article
- Luca V C et al. Structural basis for Notch1 engagement of Delta-like 4 Science Author manuscript; available in PMC 2015 May 27.