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A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features.
Pavone, Piero; Praticò, Andrea Domenico; Gentile, Giulia; Falsaperla, Raffaele; Iemmolo, Rosario; Guarnaccia, Maria; Cavallaro, Sebastiano; Ruggieri, Martino.
Affiliation
  • Pavone P; Unit of Pediatrics and Emergency Paediatrics, AOU "Policlinico-Vittorio Emanuele", Catania, Italy.
  • Praticò AD; Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy; Department of Biomedical and Biotechnological Medicine, University of Catania, Italy. Electronic address: terrenere178@tin.it.
  • Gentile G; Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
  • Falsaperla R; Unit of Pediatrics and Emergency Paediatrics, AOU "Policlinico-Vittorio Emanuele", Catania, Italy.
  • Iemmolo R; Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
  • Guarnaccia M; Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
  • Cavallaro S; Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
  • Ruggieri M; Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy.
Eur J Med Genet ; 59(5): 283-9, 2016 May.
Article in En | MEDLINE | ID: mdl-26979654
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Neurocutaneous Syndromes / Growth Disorders / Microcephaly Limits: Child, preschool / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country:
Fulltext
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Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Neurocutaneous Syndromes / Growth Disorders / Microcephaly Limits: Child, preschool / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: