The autosomal dominant tall stature-intellectual disability-facial dysmorphism syndrome is caused by mutations of the DNMT3A gene.
1. |
Tatton-Brown K et al. (2014) Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. |
2. |
OMIM.ORG article Omim 615879 |
3. |
Orphanet article Orphanet ID 404443 |