B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?
Edery
P
P
Le Deist
F
F
Briard
M L
ML
Debré
M
M
Munnich
A
A
Griscelli
C
C
Fischer
A
A
Lyonnet
S
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D002648:Child; D003638:Deafness / Q000150:complications / Q000235:genetics / Q000382:microbiology; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D007231:Infant, Newborn; D008297:Male; D009765:Obesity / Q000150:complications / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology