Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.


BACKGROUND Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this… (More)
DOI: 10.1136/jmedgenet-2012-101016


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