Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.
Frontiers in pediatrics(2023)
Abstract
This is a case report of a rare clinical syndrome caused by a very rare genetic mutation and it emphasizes the importance of genetic analysis in the timely diagnosis of oligosymptomatic patients with BBS, in order to possibly prevent long-term complications.
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Key words
bbs12 gene,syndrome,compound heterozygosity,bardet-biedl
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