Tischkowitz, M Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family. [electronic resource] - Clinical genetics Dec 2004 - 550-5 p. digital Publication Type: Case Reports; Journal Article ISSN: 0009-9163 Standard No.: 10.1111/j.1399-0004.2004.00349.x doi Subjects--Topical Terms: AdultB-Lymphocytes--immunologyFemaleFoot Deformities, Congenital--diagnostic imagingHomeodomain Proteins--geneticsHumansImmunologic Deficiency Syndromes--geneticsInfantLimb Deformities, Congenital--diagnostic imagingPedigreePhenotypeRadiographySyndromeUrogenital Abnormalities--genetics