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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.130 | GPC4 |
Achchuthan Shanmugasundram gene: GPC4 was added gene: GPC4 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPC4 were set to 31292255; 36980886 Phenotypes for gene: GPC4 were set to craniosynostosis, MONDO:0015469 Review for gene: GPC4 was set to RED Added comment: A variant in GPC4 was identified in an individual with syndromic craniosynostosis. The variant encoding p.Val152fs arose de novo in the mother (PMID:31292255) Sources: Literature |
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