Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

by Neil V Morgan, Mark R Morris, Hakan Cangul, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P G Vreeswijk, Peter Devilee, Margaret A Knowles, Serdar Ceylaner, Richard C Trembath, Carlos Dalence, Erol Kismet, Vedat Köseoğlu, Hans-Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R Maher
Published 2010-02-01