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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.169 | ZBTB20 |
Achchuthan Shanmugasundram gene: ZBTB20 was added gene: ZBTB20 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB20 were set to 34429528; 36980886 Phenotypes for gene: ZBTB20 were set to Primrose syndrome, OMIM:259050; craniosynostosis, MONDO:0015469 Review for gene: ZBTB20 was set to RED Added comment: A de novo missense variant (c.1948A>C; p.Asn650His) was identified in an individual from the 100k genomes project with craniosynostosis, congenital heart disease, intellectual disability, and spinal anomalies (PMID:34429528). Sources: Literature |
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