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Alagille Syndrome: Difference between revisions
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*Dorota Jurkiewicz et al.[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774/pdf/13353_2014_Article_212.pdf Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome] | *Dorota Jurkiewicz et al.[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774/pdf/13353_2014_Article_212.pdf Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome] | ||
*Anad F et al. [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017275/pdf/jmedgene00050-0001.pdf Alagille..and deletion 20p] | *Anad F et al. [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017275/pdf/jmedgene00050-0001.pdf Alagille..and deletion 20p] | ||
*Meritxell Huch et al.[http://www.cell.com/cell/pdf/S0092-8674(14)01566-9.pdf Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver] | |||
==Notes== | ==Notes== | ||
Revision as of 18:58, 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.
- Dorota Jurkiewicz et al.Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
- Anad F et al. Alagille..and deletion 20p
- Meritxell Huch et al.Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver
Notes
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