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| Clefting disorders v1.0 | CCN2 | Gene symbol changed from CTGF to CCN2 during gene set migration (ENSG00000118523 -> ENSG00000118523) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.273 | CTGF |
Zornitza Stark gene: CTGF was added gene: CTGF was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTGF were set to 39506047; 39414788; 12736220 Phenotypes for gene: CTGF were set to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 Review for gene: CTGF was set to AMBER Added comment: PMID: 39506047 (2025) reported three individuals from two unrelated families with different homozygous CCN2 variants and kyphomelic dysplasia - all had cleft palate or bifid uvula as part of their phenotype. Ccn2-deficient mice also show skeletal dysmorphisms as well as secondary cleft palate, supporting this association. Sources: Expert Review |
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