Van Maldergem syndrome 2
Van Maldergem syndrome 2 is an autosomal recessive disorder of malformations caused by mutations of the FAT4 gene. It is typically characterized by facial and skeletal malformations and a mental retardation.
Neuhann TM et al. (2012) A further patient with van Maldergem syndrome.[^]
Mansour S et al. (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.[^]
Cappello S et al. (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.[^]
OMIM.ORG articleOmim 615546 [^]
Orphanet articleOrphanet ID 314679 [^]