Hydrolethalus syndrome 2 is a severe lethal malformation that is caused by mutations of the KIF7 gene.
1. |
Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. |
2. |
OMIM.ORG article Omim 614120 |
3. |
Orphanet article Orphanet ID 2189 |