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

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
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