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Am J Med Genet A. 2010 Oct;152A(10):2666-9. doi: 10.1002/ajmg.a.33650.

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

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1
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands. dulfere@medgen.umcg.nl
PMID:
20827784
DOI:
10.1002/ajmg.a.33650
[Indexed for MEDLINE]
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