Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.

Davids, Mariska; Markello, Thomas; Wolfe, Lynne A; Chepa-Lotrea, Xenia; Tifft, Cynthia J; Gahl, William A; Malicdan, May Christine V

Davids, Mariska; Markello, Thomas; Wolfe, Lynne A; Chepa-Lotrea, Xenia; Tifft, Cynthia J; Gahl, William A; Malicdan, May Christine V.

Afiliación

Davids M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
Markello T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
Wolfe LA; Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland.
Chepa-Lotrea X; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
Tifft CJ; Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland.
Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.
Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland.

Hum Mutat ; 40(1): 42-47, 2019 01.

Article en En | MEDLINE | ID: mdl-30362252

Asunto(s)

Deleción Cromosómica; Espasmos Infantiles/genética; Proteínas Supresoras de Tumor/genética; Disomía Uniparental/genética; Oxidorreductasa que Contiene Dominios WW/genética; Adulto; Secuencia de Bases; Niño; Cromosomas Humanos Par 16/genética; Femenino; Proteoglicanos de Heparán Sulfato/genética; Homocigoto; Humanos; Lactante; Polimorfismo de Nucleótido Simple/genética

Palabras clave

blended phenotype; epileptic encephalopathy; perlecan; rare diseases; uniparental disomy

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Deleción Cromosómica / Disomía Uniparental / Proteínas Supresoras de Tumor / Oxidorreductasa que Contiene Dominios WW Límite: Adult / Child / Female / Humans / Infant Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos

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