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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.133 | H3F3B |
Achchuthan Shanmugasundram gene: H3F3B was added gene: H3F3B was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: H3F3B were set to 33268356; 36980886 Phenotypes for gene: H3F3B were set to craniosynostosis, MONDO:0015469 Review for gene: H3F3B was set to RED Added comment: In a cohort of 33 patients with H3F3A variants and 13 patients with H3F3B variants, 5/13 (~40%) individuals with H3F3B variants were reported with “craniosynostosis or abnormal head shape”. Of these, it is not clear if these were radiologically confirmed and what proportion of this subset of patients had synostosis compared to dysmorphic features (PMID:33268356). Sources: Literature |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.132 | H3F3A |
Achchuthan Shanmugasundram gene: H3F3A was added gene: H3F3A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: H3F3A were set to 33268356; 36980886 Phenotypes for gene: H3F3A were set to craniosynostosis, MONDO:0015469 Review for gene: H3F3A was set to RED Added comment: In a cohort of 33 patients with H3F3A variants and 13 patients with H3F3B variants, 9/33 (~30%) individuals with H3F3A variants were reported with “craniosynostosis or abnormal head shape”. Of these, it is not clear if these were radiologically confirmed and what proportion of this subset of patients had synostosis compared to dysmorphic features (PMID:33268356). Sources: Literature |
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