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PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Peron, Angela; Iascone, Maria; Salvatici, Elisabetta; Cavirani, Benedetta; Marchetti, Daniela; Corno, Silvia; Vignoli, Aglaia.
Afiliación
  • Peron A; Child Neuropsychiatry Unit-Epilepsy Center (Medical Genetics Clinic), ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Iascone M; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Salvatici E; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Cavirani B; Department of Pediatrics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy.
  • Marchetti D; Child Neuropsychiatry Unit-Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Corno S; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Vignoli A; Child Neuropsychiatry Unit-Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Am J Med Genet A ; 182(6): 1477-1482, 2020 06.
Article en En | MEDLINE | ID: mdl-32198969
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / Aciltransferasas / Glicosilfosfatidilinositoles / Proteínas de la Membrana / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / Aciltransferasas / Glicosilfosfatidilinositoles / Proteínas de la Membrana / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia