Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report
| dc.contributor.author | Chaisrisawadisuk S. | |
| dc.contributor.other | Mahidol University | |
| dc.date.accessioned | 2023-06-20T05:33:12Z | |
| dc.date.available | 2023-06-20T05:33:12Z | |
| dc.date.issued | 2022-04-01 | |
| dc.description.abstract | 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. | |
| dc.identifier.citation | Child's Nervous System Vol.38 No.4 (2022) , 843-846 | |
| dc.identifier.doi | 10.1007/s00381-021-05285-7 | |
| dc.identifier.eissn | 14330350 | |
| dc.identifier.issn | 02567040 | |
| dc.identifier.pmid | 34247275 | |
| dc.identifier.scopus | 2-s2.0-85110811255 | |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/20.500.14594/87349 | |
| dc.rights.holder | SCOPUS | |
| dc.subject | Medicine | |
| dc.title | Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report | |
| dc.type | Article | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85110811255&origin=inward | |
| oaire.citation.endPage | 846 | |
| oaire.citation.issue | 4 | |
| oaire.citation.startPage | 843 | |
| oaire.citation.title | Child's Nervous System | |
| oaire.citation.volume | 38 | |
| oairecerif.author.affiliation | Siriraj Hospital | |
| oairecerif.author.affiliation | Women's and Children's Hospital Adelaide |