Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0610-0.pdf
Reference13 articles.
1. Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab. 2009;297:289–96.
2. Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D. Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis. 2010;5:33.
3. Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, et al. Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Com. 2008;369:1125–8.
4. Missaglia S, Valadared ER, Moro L, Faguntes ED, Quintão Roque R, Giardina B, et al. Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter. BMC Med Genet. 2014;15:32.
5. Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M. Bi-allelic nonsense mutations in ABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. J Dermatol Sci. 2016;81:134–6.
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