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Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations

Multiple SkinDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsPathologyCraniofacial DevelopmentDisease Gene IdentificationNeuropathologyMedicineG MutationCcm1 GeneNeurogenetics