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

  • J Med Genet. 2001 Jul;38(7):488-93. doi: 10.1136/jmg.38.7.488.
P Edery ,  F Le Deist ,  M L Briard ,  M Debré ,  A Munnich ,  C Griscelli ,  A Fischer ,  S Lyonnet
PMID: 11476068 DOI: 10.1136/jmg.38.7.488