Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.

Ana Simičić Majce,Darija Tudor,Marko Simunovic,Marko Todorovic,Mladenka Parlov,Bernarda Lozic,Mirna Saraga-Babić,Marijan Saraga,Adela Arapović

Frontiers in pediatrics（2023）

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摘要

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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关键词

bbs12 gene,syndrome,compound heterozygosity,bardet-biedl

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