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- Title
Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.
- Authors
Chaisrisawadisuk, Sarut; Taranath, Ajay; Azzopardi, Jonathan; Moore, Mark H.
- 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.
- Subjects
CELL receptors; CRANIOSYNOSTOSES; ADAPTOR proteins; CRANIAL sutures; TOLL-like receptors
- Publication
Child's Nervous System, 2022, Vol 38, Issue 4, p843
- ISSN
0256-7040
- Publication type
Case Study
- DOI
10.1007/s00381-021-05285-7