References
- 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 Dec;5(1):33–11. doi:https://doi.org/10.1186/1750-1172-5-33.
- Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007 Jan;39(1):28–30. doi:https://doi.org/10.1038/ng1951.
- Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D'Amico A, et al. Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun. 2008 May 16;369(4):1125–8. doi:https://doi.org/10.1016/j.bbrc.2008.03.010.
- Piva E, Pajola R, Binotto G, Plebani M. Jordans' anomaly in a new neutral lipid storage disease. Am J Hematol. 2009 Apr;84(4):254–5. doi:https://doi.org/10.1002/ajh.21186.
- Schleinitz N, Fischer J, Sanchez A, Veit V, Harle J-R, Pelissier J-F. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. Arch Dermatol. 2005;141(6):798–800. doi:https://doi.org/10.1001/archderm.141.6.798.