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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.163 | SP7 |
Achchuthan Shanmugasundram gene: SP7 was added gene: SP7 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SP7 were set to 35121733; 36980886 Phenotypes for gene: SP7 were set to craniosynostosis, MONDO:0015469 Review for gene: SP7 was set to RED Added comment: A de novo missense variant (c.926 C>G; p.Ser309Trp) in SP7 was identified in a patient with craniosynostosis, cranial hyperostosis, and long bone fragility. Mice with the corresponding variant also show a complex skeletal phenotype distinct from that of Sp7-null mice (PMID:35121733). Sources: Literature |
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