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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.134 | HDAC4 |
Achchuthan Shanmugasundram gene: HDAC4 was added gene: HDAC4 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature cnv tags were added to gene: HDAC4. Mode of inheritance for gene: HDAC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HDAC4 were set to 33288889; 36980886 Phenotypes for gene: HDAC4 were set to craniosynostosis, MONDO:0015469 Review for gene: HDAC4 was set to RED Added comment: A patient was described with two copy number variants: g.233110452_ 243028452 and del g.210300_ 8664358dup. The second variant was maternally inherited (PMID:33288889) Sources: Literature |