Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes

Abstrakt

We conclude that these cases may represent a new genetic disorder caused by hemizygous loss of the HOXC cluster and/or the adjacent genes. The genotype-phenotype correlation and the assignment of causal roles to specific genes will profit from the description of additional patients with this rare syndrome, and from the revision of the phenotype of heterozygous knock out animals.

Klíčová slova

• intellectual disability
• embryonic-development
• differentiation
• homeosis