Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas
Abstract Background A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for proper development of various organs during development. Mutations in different domains of the GLI3 gene underlie several c...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
BMC
2018-01-01
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| মালা: | Diagnostic Pathology |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | http://link.springer.com/article/10.1186/s13000-017-0682-8 |
| ট্যাগগুলো: |
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