A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.

Viitasalo, Liisa; Kettunen, Kaisa; Kankainen, Matti; Niemelä, Elina H; Kiiski, Kirsi

Viitasalo, Liisa; Kettunen, Kaisa; Kankainen, Matti; Niemelä, Elina H; Kiiski, Kirsi.

Afiliación

Viitasalo L; HUS Diagnostic Center, Division of Genetics and Clinical Pharmacology, Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Kettunen K; HUS Diagnostic Center, Division of Genetics and Clinical Pharmacology, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Kankainen M; HUS Diagnostic Center, Division of Genetics and Clinical Pharmacology, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Niemelä EH; HUS Diagnostic Center, Division of Genetics and Clinical Pharmacology, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Kiiski K; HUS Diagnostic Center, Division of Genetics and Clinical Pharmacology, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Mol Genet Genomic Med ; 10(11): e2037, 2022 11.

Article en En | MEDLINE | ID: mdl-35979655

Asunto(s)

Haploinsuficiencia; Hibridación Genómica Comparativa; Fenotipo; Exones

Palabras clave

JARID2; RNA sequencing; de novo; duplication; pathogenic variant; whole genome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Haploinsuficiencia Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Estados Unidos

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