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Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report
Sarut Chaisrisawadisuk1,2, Ajay Taranath3, Jonathan Azzopardi4
1Cleft and Craniofacial South Australia, Women's and Children's Hospital, North Adelaide, Adelaide, South Australia, Australia. sarut.cha@mahidol.ac.th.
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.
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