Article
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
PLoS genetics - 5 Feb 2010
Morgan Neil V, Morris Mark R, Cangul Hakan, Gleeson Diane, Straatman-Iwanowska Anna, Davies Nicholas, Keenan Stephen, Pasha Shanaz, Rahman Fatimah, Gentle Dean, Vreeswijk Maaike P G, Devilee Peter, Knowles Margaret A, Ceylaner Serdar, Trembath Richard C, Dalence Carlos, Kismet Erol, Köseoğlu Vedat, Rossbach Hans-Christoph, Gissen Paul, Tannahill David, Maher Eamonn R
Abstract excerpt
The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histi...
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