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Alagille Syndrome: Difference between revisions
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* 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 [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489410/pdf/pone.0130355.pdf open access full article ] | * 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 [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489410/pdf/pone.0130355.pdf open access full article ] | ||
*Luca V C et al. Structural basis for Notch1 engagement of Delta-like 4 [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445638/pdf/nihms691940.pdf Science Author manuscript; available in PMC 2015 May 27.] | *Luca V C et al. Structural basis for Notch1 engagement of Delta-like 4 [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445638/pdf/nihms691940.pdf Science Author manuscript; available in PMC 2015 May 27.] | ||
*Anad F et al. [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017275/pdf/jmedgene00050-0001.pdf ..and deltion 20p] | |||
==Notes== | ==Notes== | ||
Revision as of 18:40, 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.
- Anad F et al. ..and deltion 20p