title: CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.
authors.forename: Leonilda
authors.initials: L
authors.lastname: Bilo
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Antenora
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.
authors.forename: Silvio
authors.initials: S
authors.lastname: Peluso
authors.affiliation: Unit of Dermatology, ASL NA1, Naples, Italy.
authors.forename: Enrico Maria
authors.initials: EM
authors.lastname: Procaccini
authors.affiliation: Biostructure and Bioimaging Institute, CNR, Naples, Italy.
authors.forename: Mario
authors.identifier: http://orcid.org/0000-0001-7836-454X
authors.initials: M
authors.lastname: Quarantelli
authors.affiliation: Anatomic Pathology Section, Department of Advanced Biomedical Sciences, "Federico II" University, Naples, Italy.
authors.forename: Gelsomina
authors.initials: G
authors.lastname: Mansueto
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Maria Sole
authors.initials: MS
authors.lastname: Cigoli
authors.affiliation: Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
mesh_terms: D000328:Adult; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D002196:Capillaries / Q000002:abnormalities* / Q000473:pathology; D020785:Central Nervous System Vascular Malformations / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002819:Chorea / Q000209:etiology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012868:Skin Abnormalities / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D051017:Apoptosis Regulatory Proteins; D018389:Codon, Nonsense; D008565:Membrane Proteins; C495390:PDCD10 protein, human; D011518:Proto-Oncogene Proteins