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Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari, Francesca; Marozza, Annabella; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Fallerini, Chiara; Dosa, Laura; Di Marco, Chiara; Carignani, Giulia; Baldassarri, Margherita; Cianci, Paola; Vivarelli, Rossella; Vascotto, Marina; Grosso, Salvatore; Rubegni, Pietro; Caffarelli, Carla; Pretegiani, Elena; Fimiani, Michele; Garavelli, Livia; Cristofoli, Francesca; Vermeesch, Joris R; Nuti, Ranuccio; Dotti, Maria Teresa; Balestri, Paolo; Hayek, Joussef; Selicorni, Angelo; Renieri, Alessandra.
Afiliação
  • Mari F; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: francesca.mari@unisi.it.
  • Marozza A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Mencarelli MA; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Lo Rizzo C; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Fallerini C; Medical Genetics, University of Siena, Siena, Italy.
  • Dosa L; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Di Marco C; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Carignani G; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Baldassarri M; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Cianci P; Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, Italy.
  • Vivarelli R; Pediatric Unit, University of Siena, Siena, Italy.
  • Vascotto M; Pediatric Unit, University of Siena, Siena, Italy.
  • Grosso S; Pediatric Unit, University of Siena, Siena, Italy.
  • Rubegni P; Dept of Clinical Medicine and Immunological Science, Dermatology Section, University of Siena, Siena, Italy.
  • Caffarelli C; Dept of Internal Medicine, Endocrine-Metabolic Science and Biochemistry, University of Siena, Italy.
  • Pretegiani E; Medical, Surgical and Neurological Sciences, Neurodegenerative Disease Unit, University of Siena, Siena, Italy.
  • Fimiani M; Dept of Clinical Medicine and Immunological Science, Dermatology Section, University of Siena, Siena, Italy.
  • Garavelli L; Clinical Genetics Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy.
  • Cristofoli F; Center for Human Genetics, KU Leuven, University Hospital Gasthuisberg, Leuven, Belgium.
  • Vermeesch JR; Center for Human Genetics, KU Leuven, University Hospital Gasthuisberg, Leuven, Belgium.
  • Nuti R; Dept of Internal Medicine, Endocrine-Metabolic Science and Biochemistry, University of Siena, Italy.
  • Dotti MT; Medical, Surgical and Neurological Sciences, Neurodegenerative Disease Unit, University of Siena, Siena, Italy.
  • Balestri P; Pediatric Unit, University of Siena, Siena, Italy.
  • Hayek J; Child Neuropsychiatry Unit, University Hospital, AOUS, Siena, Italy.
  • Selicorni A; Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, Italy.
  • Renieri A; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Brain Dev ; 37(5): 527-36, 2015 May.
Article em En | MEDLINE | ID: mdl-25249037
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Face / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Dev Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Face / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Dev Ano de publicação: 2015 Tipo de documento: Article