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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.148 | PITX2 |
Achchuthan Shanmugasundram gene: PITX2 was added gene: PITX2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX2 were set to 36980886 Review for gene: PITX2 was set to RED Added comment: Tooze et al has reviewed in PMID:36980886 from unpublished data that two cases of de novo missense variants are known with craniosynostosis, but not reported. Sources: Literature |
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