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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.131 | GLIS3 |
Achchuthan Shanmugasundram gene: GLIS3 was added gene: GLIS3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS3 were set to 26259131; 36980886 Phenotypes for gene: GLIS3 were set to craniosynostosis, MONDO:0015469 Review for gene: GLIS3 was set to RED Added comment: One patient was described with a variant in GLIS3 and sagittal craniosynostosis requiring surgical intervention. The patient harboured a homozygous deletion of exons 9 – 11; consanguinity was not confirmed but suspected (PMID:26259131). Sources: Literature |
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