Wikisage, the free encyclopedia of the second generation, is digital heritage
Alagille Syndrome: Difference between revisions
Jump to navigation
Jump to search
(→Links: 4) |
(rfz) |
||
| Line 1: | Line 1: | ||
'''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>; with abnormalities of the liver, heart, eye, skeleton and a characteristic facial appearance | <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<ref>http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050291/pdf/jmedgene00084-0045.pdf</ref> | ||
{{disease|Q44.7|Allagille syndrome}} | {{disease|Q44.7|Allagille syndrome}} | ||
==Links== | ==Links== | ||
Revision as of 18:45, 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[3]
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.
- Anad F et al. ..and deltion 20p