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Alagille Syndrome: Difference between revisions
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''' | '''[[Daniel Alagille|Alagille]] syndrome''' 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.ncbi.nlm.nih.gov/pmc/articles/PMC1050291/pdf/jmedgene00084-0045.pdf</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<ref>http://circinterventions.ahajournals.org/content/6/4/460.full.pdf+html</ref>, 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== | ||
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*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.Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver[http://www.cell.com/cell/pdf/S0092-8674(14)01566-9.pdf Cell 160:299-312, 2015] | *Meritxell Huch et al.Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver[http://www.cell.com/cell/pdf/S0092-8674(14)01566-9.pdf Cell 160:299-312, 2015] | ||
*[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.] | |||
*[http://www.scielo.org.ar/pdf/aap/v110n6/v110n6a09.pdf síndrome de Alagille] | |||
{{Wikidata|Q1544408}} | |||
==Notes== | ==Notes== | ||
Latest revision as of 13:57, 3 March 2018
Alagille syndrome 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.
- síndrome de Alagille
Notes
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