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A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo.
Afiliação
  • Politano D; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Gana S; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Pezzotti E; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Berardinelli A; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
  • Pasca L; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
  • Carmen Barbero V; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Department of Neuroradiology, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy.
  • Maria Valente E; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Errichiello E; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address: edoardo.errichiello@unipv.it.
Brain Dev ; 45(3): 179-184, 2023 Mar.
Article em En | MEDLINE | ID: mdl-36446697
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropeptídeos / Síndrome de Rett / Epilepsia Generalizada / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Brain Dev Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropeptídeos / Síndrome de Rett / Epilepsia Generalizada / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Brain Dev Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália País de publicação: Holanda