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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Archive ouverte | Carmignac, Virginie | CCSD

International audience. Purpose: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pi...

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Archive ouverte | Vabres, Pierre | CCSD

International audience

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Archive ouverte | Vabres, Pierre | CCSD

International audience

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