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.
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Neuhann TM et al. (2012) A further patient with van Maldergem syndrome. |
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Mansour S et al. (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. |
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Cappello S et al. (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. |
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OMIM.ORG article Omim 615546 |
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Orphanet article Orphanet ID 314679 |