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letter . 2001 Jul;38(7):488–493. doi: 10.1136/jmg.38.7.488
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?
P Edery
, F Le Deist
, M Briard
, M Debre
, A Munnich
, C Griscelli
, A Fischer
, S Lyonnet
P Edery
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F Le Deist
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M Briard
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M Debre
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A Munnich
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C Griscelli
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A Fischer
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S Lyonnet
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PMCID: PMC1757192 PMID: 11476068