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Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco; Castori, Marco; Grammatico, Paola.
Afiliación
  • Laino L; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. Electronic address: luigi.laino@uniroma1.it.
  • Bottillo I; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Piedimonte C; Department of Pediatrics and Child Neuropsychiatry, Sapienza University, Policlinico Umberto I University Hospital, Rome, Italy.
  • Bernardini L; Unit of Cytogenetics, Mendel Laboratory, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, FG, Italy.
  • Torres B; Unit of Cytogenetics, Mendel Laboratory, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, FG, Italy.
  • Grammatico B; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Bargiacchi S; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Mulargia C; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Calvani M; Division of Pediatrics, San Camillo-Forlanini Hospital, Rome, Italy.
  • Cardona F; Department of Pediatrics and Child Neuropsychiatry, Sapienza University, Policlinico Umberto I University Hospital, Rome, Italy.
  • Castori M; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Eur J Paediatr Neurol ; 20(6): 971-976, 2016 Nov.
Article en En | MEDLINE | ID: mdl-27470653
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteína Accesoria del Receptor de Interleucina-1 / Cara / Dedos / Discapacidad Intelectual Tipo de estudio: Etiology_studies Límite: Child / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteína Accesoria del Receptor de Interleucina-1 / Cara / Dedos / Discapacidad Intelectual Tipo de estudio: Etiology_studies Límite: Child / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article Pais de publicación: Reino Unido