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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.154 | PUF60 |
Achchuthan Shanmugasundram gene: PUF60 was added gene: PUF60 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 36367278; 36980886 Phenotypes for gene: PUF60 were set to craniosynostosis, MONDO:0015469 Review for gene: PUF60 was set to RED Added comment: A patient presenting with Verheij syndrome, characterised by craniofacial dysmorphism, multiple congenital anomalies and variable neurodevelopmental delay, was identified with a heterozygous variant in the splicing factor PUF60 (c.436C>T; p.Arg146Cys). They displayed fusion of the coronal and sagittal suture (PMID:36367278). Sources: Literature |
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