Comparison of clinical features of families with SLC29A3 mutations from this report and those reported with H syndrome and PHID syndrome.

Clinical details were taken from published reports and unpublished updated information for the three families included in the present study. Previously unreported additional information is shown in bold. Mutation nomenclature used is based on reference sequence NM_018344.4. (Abbreviations: SHML = Sinus Histiocytosis with Massive Lymphadenopathy; IDDM = Insulin dependent diabetes mellitus; ASD = atrial septal defect; PS = Pulmonary stenosis; PDA = patent ductus areteriosis; TCC = transitional cell carcinoma).