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Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania.
Afiliación
  • Farnè M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Bernardini L; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo (FG), Italy.
  • Capalbo A; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo (FG), Italy.
  • Cavarretta G; Medical Genetics Unit, Department of Mother and Child, Ferrara Sant'Anna University Hospital, Ferrara, Italy.
  • Torres B; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo (FG), Italy.
  • Sanchini M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Fini S; Medical Genetics Unit, Department of Mother and Child, Ferrara Sant'Anna University Hospital, Ferrara, Italy.
  • Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Bigoni S; Medical Genetics Unit, Department of Mother and Child, Ferrara Sant'Anna University Hospital, Ferrara, Italy.
Am J Med Genet A ; 188(2): 692-707, 2022 02.
Article en En | MEDLINE | ID: mdl-34665525

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia