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  Bardet-Biedl S. and McKusick-Kaufmann S.

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Author Topic:   Bardet-Biedl S. and McKusick-Kaufmann S.
posted 03-12-2003 04:31 AM     Click Here to See the Profile for ralewis   Click Here to Email ralewis     Edit/Delete Message Reply w/Quote
We continue to enroll individuals and families with BBS or MKKS in an approved protocol to identify all the more than 8 genes responsible for these phenotypes. We are especially interested in BBS patients with situs inversus.
The protocol requires recovery of clinical records to confirm the diagnosis and acquisition of blood from the nuclear family and some extended members for segregation and for mutational screens, including triallelic inheritanced.

Richard Alan Lewis M.D., M.S.
Dept. of Ophthalmology
Baylor College of Medicine


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