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CASE REPORT

Bardet-Biedl syndrome: A rare cause of end stage renal disease

Hemachandar R

Year : 2015| Volume: 5| Issue : 1 | Page no: 70-72

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1 Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
Muzammil Ahmad Khan,Sumitra Mohan,Muhammad Zubair,Christian Windpassinger
BMC Medical Genetics. 2016; 17(1)
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