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Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa.
Venti, Valeria; Scalia, Bruna; Sauna, Alessandra; Nasca, Maria Rita; Smilari, Pierluigi; Praticò, Andrea D; Fiumara, Agata; Pappalardo, Xena G; Pavone, Piero.
Affiliation
  • Venti V; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Scalia B; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Sauna A; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Nasca MR; Dermatologic Clinic, University of Catania, Catania, Italy.
  • Smilari P; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Praticò AD; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Fiumara A; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Pappalardo XG; National Council of Research, CNR, Institute for Research and Innovation in Biomedicine (IRIB) Unit of Catania, Catania, Italy.
  • Pavone P; Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Mol Syndromol ; 10(6): 332-338, 2020 Jan.
Article in En | MEDLINE | ID: mdl-32021608

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Syndromol Year: 2020 Document type: Article Affiliation country: Italy Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Syndromol Year: 2020 Document type: Article Affiliation country: Italy Country of publication: Switzerland