Your browser doesn't support javascript.
loading
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
Zollino, Marcella; Ranieri, Carlotta; Grossi, Valentina; Leoni, Chiara; Lattante, Serena; Mazzà, Daniela; Simone, Cristiano; Resta, Nicoletta.
Afiliación
  • Zollino M; Fondazione Policlinico Universitario A. Gemelli IRCCS, Unità Operativa Complessa di Genetica Medica, Rome, Italy.
  • Ranieri C; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Grossi V; Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.
  • Leoni C; Medical Genetics, National Institute of Gastroenterology 'S. de Bellis' Research Hospital, Castellana Grotte (BA), Italy.
  • Lattante S; Department of Human and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Mazzà D; Istituto di Pediatria, Università Cattolica del Sacro Cuore, Roma, Italia.
  • Simone C; Fondazione Policlinico Universitario A. Gemelli IRCCS, Unità Operativa Complessa di Genetica Medica, Rome, Italy.
  • Resta N; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.
Mol Genet Genomic Med ; 7(8): e845, 2019 08.
Article en En | MEDLINE | ID: mdl-31290289
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Megalencefalia / Fosfatidilinositol 3-Quinasa Clase I Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Megalencefalia / Fosfatidilinositol 3-Quinasa Clase I Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Italia