B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

• Published in: Journal of medical genetics 2001-07, Vol.38 (7), p.488-492
• Main Authors: Edery, Patrick, Le Deist, Françoise, Briard, Marie-Louise, Debré, Marianne, Munnich, Arnold, Griscelli, Claude, Fischer, Alain, Lyonnet, Stanislas
• Format: Article
• Language: English
• Subjects: Abnormalities; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Abnormalities, Multiple - physiopathology; Adult; B cells; Biological and medical sciences; Cell differentiation; Child; Complex syndromes; Deafness - complications; Deafness - genetics; Deafness - microbiology; Extremities (Anatomy); Female; Foot Deformities, Congenital - complications; Foot Deformities, Congenital - diagnosis; Foot Deformities, Congenital - genetics; Foot Deformities, Congenital - pathology; Genes, Dominant - genetics; Genetic aspects; Genitourinary organs; Hand Deformities, Congenital - complications; Hand Deformities, Congenital - diagnosis; Hand Deformities, Congenital - genetics; Hand Deformities, Congenital - pathology; Humans; Immunodeficiency; Immunologic Deficiency Syndromes - complications; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Infant, Newborn; Letters to the Editor; Male; Medical genetics; Medical sciences; Obesity - complications; Obesity - genetics; Pedigree; Syndrome; Urogenital Abnormalities - complications; Urogenital Abnormalities - diagnosis; Urogenital Abnormalities - genetics; Urogenital Abnormalities - physiopathology
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.38.7.488