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Alessia Indrieri, Ivan Conte, Giancarlo Chesi, Alessia Romano, Jade Quartararo, Rosarita Tatè, Daniele Ghezzi, Massimo Zeviani, Paola Goffrini, Ileana Ferrero, Paola Bovolenta and Brunella Franco The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes EMBO Molecular Medicine 5

Version of Record online: 22 JAN 2013 | DOI: 10.1002/emmm.201201739

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The X-linked disorder microphtalmia with skin lesions (MLS) is caused by HCCS gene mutations. The disease phenotype is now be explained by the increased non-conventional caspase-9 -mediated cell death in the brain and eyes due to HCCS impairment.

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