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Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.
Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Sheila; d'Adamo, Pio Adamo.
Afiliação
  • Di Stazio M; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34127 Trieste, Italy.
  • Bigoni S; Medical Genetic Unit, Department of Mother and Child, Ferrara University Hospital, 44121 Ferrara, Italy.
  • Iuso N; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34127 Trieste, Italy.
  • Vuch J; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34127 Trieste, Italy.
  • Selvatici R; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
  • Ulivi S; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34127 Trieste, Italy.
  • d'Adamo PA; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34127 Trieste, Italy.
Brain Sci ; 11(8)2021 Aug 22.
Article em En | MEDLINE | ID: mdl-34439726
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Brain Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Brain Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália