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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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2024-09-01
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| Series: | Pediatria Polska |
| Subjects: | |
| 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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