A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome
Several mutations in the IRF6 gene have been identified as a causative link to VWS. In this investigation, whole-exome sequencing (WES) and Sanger sequencing of a three-generation pedigree with an autosomal-dominant inheritance pattern affected by VWS identified a unique stop-gain mutation—c.748C>...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , |
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| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Frontiers Media S.A.
2024-06-01
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| মালা: | Frontiers in Genetics |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1397410/full |
| ট্যাগগুলো: |
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