A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.

Mitra, Amit Kumar; Dodge, Jessica; Van Ness, Jody; Sokeye, Israel; Van Ness, Brian

Mitra, Amit Kumar; Dodge, Jessica; Van Ness, Jody; Sokeye, Israel; Van Ness, Brian.

Afiliación

Mitra AK; Department of Genetics, Cell Biology & Development University of Minnesota Minneapolis Minnesota.
Dodge J; Fraser Child & Family Center Minneapolis Minnesota.
Van Ness J; Eyebox Tools, Inc.MinneapolisMinnesota; Present address: Jody Van Ness, Institute for Community IntegrationUniversity of MinnesotaMinneapolisMinnesota.
Sokeye I; Plymouth Psych Group Plymouth Minnesota.
Van Ness B; Department of Genetics, Cell Biology & Development University of Minnesota Minneapolis Minnesota.

Mol Genet Genomic Med ; 5(2): 130-140, 2017 Mar.

Article en En | MEDLINE | ID: mdl-28361099

Palabras clave

CYP2D6; EHMT1; Kleefstra syndrome; exome sequencing

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2017 Tipo del documento: Article

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