A Novel de novo Frameshift Mutation in the <i>BCL11A</i> Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Korenke, Georg Christoph; Schulte, Björn; Biskup, Saskia; Neidhardt, John; Owczarek-Lipska, Marta

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Korenke, Georg Christoph; Schulte, Björn; Biskup, Saskia; Neidhardt, John; Owczarek-Lipska, Marta.

Afiliação

Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.
Schulte B; Praxis für Humangenetik, Tübingen, Germany.
Biskup S; Center for Genomics and Transcriptomics, CeGaT GmbH, Tübingen, Germany.
Neidhardt J; Praxis für Humangenetik, Tübingen, Germany.
Owczarek-Lipska M; Center for Genomics and Transcriptomics, CeGaT GmbH, Tübingen, Germany.

Mol Syndromol ; 11(3): 135-140, 2020 Jul.

Article em En | MEDLINE | ID: mdl-32903878

Palavras-chave

BCL11A; Dias-Logan syndrome; Epilepsy; Novel mutation; Trio whole-exome sequencing

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Syndromol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google