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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.115 | CTNNA1 |
Achchuthan Shanmugasundram gene: CTNNA1 was added gene: CTNNA1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNNA1 were set to 31292255; 36980886 Phenotypes for gene: CTNNA1 were set to craniosynostosis, MONDO:0015469 Review for gene: CTNNA1 was set to RED Added comment: A de novo insertion (p.Val374_375ins) was identified in an individual from a screen of patients with syndromic craniosynostosis. This patient had sagittal craniosynostosis (PMID:31292255). Sources: Literature |
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