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Alagille Syndrome: Difference between revisions
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*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925268/pdf/ejhg2013140a.pdf Clinical utility gene card for: Alagille Syndrome (ALGS)] | *[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925268/pdf/ejhg2013140a.pdf Clinical utility gene card for: Alagille Syndrome (ALGS)] | ||
*Stefano Zanotti and Ernesto Canalis. Notch Signaling In Skeletal Health and Disease [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501254/pdf/nihms690328.pdf Eur J Endocrinol. Author manuscript; available in PMC 2015 July 14.] | *Stefano Zanotti and Ernesto Canalis. Notch Signaling In Skeletal Health and Disease [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501254/pdf/nihms690328.pdf Eur J Endocrinol. Author manuscript; available in PMC 2015 July 14.] | ||
{{Wikidata|Q1544408}} | {{Wikidata|Q1544408}} | ||
==Notes== | ==Notes== | ||
Revision as of 21:17, 7 February 2016
Alagylle syndrom is a multisystemic disease autosomal dominant, with variable expression [1][2]; with abnormalities of the liver, heart[3], eye, skeleton and a characteristic facial appearance[4]
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 LiverCell 160:299-312, 2015
- Clinical utility gene card for: Alagille Syndrome (ALGS)
- Stefano Zanotti and Ernesto Canalis. Notch Signaling In Skeletal Health and Disease Eur J Endocrinol. Author manuscript; available in PMC 2015 July 14.
Notes
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