Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.

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

0009-9163

10.1111/j.1399-0004.2004.00349.x doi


Adult
B-Lymphocytes--immunology
Female
Foot Deformities, Congenital--diagnostic imaging
Homeodomain Proteins--genetics
Humans
Immunologic Deficiency Syndromes--genetics
Infant
Limb Deformities, Congenital--diagnostic imaging
Pedigree
Phenotype
Radiography
Syndrome
Urogenital Abnormalities--genetics