Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report
Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting...
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th-mahidol.746882022-08-04T11:26:54Z Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report Sarut Chaisrisawadisuk Ajay Taranath Jonathan Azzopardi Mark H. Moore Siriraj Hospital Women's and Children's Hospital Adelaide Medicine Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7. 2022-08-04T04:26:54Z 2022-08-04T04:26:54Z 2022-04-01 Article Child's Nervous System. Vol.38, No.4 (2022), 843-846 10.1007/s00381-021-05285-7 14330350 02567040 2-s2.0-85110811255 https://repository.li.mahidol.ac.th/handle/123456789/74688 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85110811255&origin=inward |
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Medicine Sarut Chaisrisawadisuk Ajay Taranath Jonathan Azzopardi Mark H. Moore Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report |
| description |
Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7. |
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Siriraj Hospital |
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Siriraj Hospital Sarut Chaisrisawadisuk Ajay Taranath Jonathan Azzopardi Mark H. Moore |
| format |
Article |
| author |
Sarut Chaisrisawadisuk Ajay Taranath Jonathan Azzopardi Mark H. Moore |
| author_sort |
Sarut Chaisrisawadisuk |
| title |
Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report |
| title_short |
Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report |
| title_full |
Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report |
| title_fullStr |
Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report |
| title_full_unstemmed |
Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report |
| title_sort |
multi-suture craniosynostosis in c.1570c>t (p.arg524trp) mutated traf7: a case report |
| publishDate |
2022 |
| url |
https://repository.li.mahidol.ac.th/handle/123456789/74688 |
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1763487586716745728 |