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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.150 | PSMC2 |
Achchuthan Shanmugasundram gene: PSMC2 was added gene: PSMC2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PSMC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC2 were set to 28808027; 36980886 Phenotypes for gene: PSMC2 were set to craniosynostosis, MONDO:0015469 Review for gene: PSMC2 was set to RED Added comment: An individual was described with metopic synostosis and a de novo variant in PSMC2 (p.Arg297Gly) (PMID:28808027). Sources: Literature |
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