Article
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.
American journal of medical genetics. Part A - 1 Apr 2026
Elshafie Reem M, Lin Yeu-Farn, Pecora Isabella, Buddle Evan R S, Ali Nawal Y, Marafi Dana, Alshammari Asmaa M, Sadik Doaa I, Elshafey Alaa Eldin, Bastaki Laila, Bernard Daniel J, Alsharhan Hind
Abstract excerpt
Craniosynostosis is characterized by premature fusion of cranial sutures, often with a complex genetic basis. While multiple genes have been implicated, the role of TGFBR3 mutations remains largely uncharacterized in human craniosynostosis. We report two Kuwaiti male siblings, born to consanguineous parents, who presented with syndromic features including craniosynostosis involving the lambdoid and posterior...
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