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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.152 | PSMD12 |
Achchuthan Shanmugasundram gene: PSMD12 was added gene: PSMD12 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMD12 were set to 34429528; 36980886 Phenotypes for gene: PSMD12 were set to craniosynostosis, MONDO:0015469 Review for gene: PSMD12 was set to RED Added comment: A heterozygous variant was identified in the UK 100k genomes project (parents were not available for testing): c.1284G>A; p.Trp428* (PMID:34429528) Sources: Literature |
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