Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene

Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder, resulting from mutations in various genes, including TTC8. Abnormal variants in this gene were found in the case of our patients – twin sisters diagnosed with BBS. Next-generation sequencing revealed variants in the TTC8 gene: c.-1...

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Bibliographic Details
Main Authors: Agnieszka Murawska, Kamil Możdżeń, Grzegorz Horosin, Edward Pędziwiatr, Joanna Makowska, Jakub Pośpiech, Konrad Kaleta, Dorota Drożdż, Katarzyna Zachwieja
Format: Article
Language:English
Published: Termedia Publishing House 2024-09-01
Series:Pediatria Polska
Subjects:
case report
mutation
ciliopathy
bardet-biedl syndrome
ttc8
Online Access:https://www.termedia.pl/Case-report-of-twins-with-Bardet-Biedl-syndrome-exhibiting-a-rare-mutation-in-the-TTC8-gene,127,54958,1,1.html
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https://www.termedia.pl/Case-report-of-twins-with-Bardet-Biedl-syndrome-exhibiting-a-rare-mutation-in-the-TTC8-gene,127,54958,1,1.html

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