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

Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania.

Afiliação

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 em En | MEDLINE | ID: mdl-34665525

Assuntos

Deficiência Intelectual; Anormalidades Múltiplas; Adulto; Deleção Cromossômica; Cromossomos Humanos Par 17; Feminino; Humanos; Deficiência Intelectual/diagnóstico; Deficiência Intelectual/genética; Deficiência Intelectual/patologia; Proteínas Nucleares/genética; Fenótipo

Palavras-chave

17q21.31 microdeletion; KANSL1; Koolen-de Vries syndrome; adult phenotype

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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