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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.143 | NAA25 |
Achchuthan Shanmugasundram gene: NAA25 was added gene: NAA25 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: NAA25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NAA25 were set to 30152016; 36980886 Phenotypes for gene: NAA25 were set to craniosynostosis, MONDO:0015469 Review for gene: NAA25 was set to RED Added comment: One individual was described with sagittal synostosis to harbour a de novo frameshifting variant in NAA25 (p.Phe359fs*) (PMID:30152016). Sources: Literature |
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