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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.128 | FUZ |
Achchuthan Shanmugasundram gene: FUZ was added gene: FUZ was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUZ were set to 34719684; 36980886 Phenotypes for gene: FUZ were set to craniosynostosis, MONDO:0015469 Review for gene: FUZ was set to RED Added comment: A pair of monozygotic twins were described with craniosynostosis and a novel variant in FUZ (c.851G>C; p.Arg284Pro) (PMID:34719684). Sources: Literature |
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