A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in <i>RBM10</i>.

Owczarek-Lipska, Marta; Markus, Fenja; Bültmann, Eva; Korenke, G Christoph; Neidhardt, John

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.

Owczarek-Lipska, Marta; Markus, Fenja; Bültmann, Eva; Korenke, G Christoph; Neidhardt, John.

Afiliación

Owczarek-Lipska M; Junior Research Group, Genetics of Childhood Brain Malformations, School of Medicine and Health Sciences, Faculty VI, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129 Oldenburg, Germany.
Markus F; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129 Oldenburg, Germany.
Bültmann E; Research Center Neurosensory Science, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129 Oldenburg, Germany.
Korenke GC; Junior Research Group, Genetics of Childhood Brain Malformations, School of Medicine and Health Sciences, Faculty VI, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129 Oldenburg, Germany.
Neidhardt J; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129 Oldenburg, Germany.

Genes (Basel) ; 13(11)2022 11 18.

Article en En | MEDLINE | ID: mdl-36421828

Asunto(s)

Pie Equinovaro; Síndrome de Pierre Robin; Masculino; Humanos; Niño; Vena Cava Superior; Fenotipo; Enfermedades Raras; Proteínas de Unión al ARN/genética

Palabras clave

RBM10; Robin's syndrome; TARP; disease-association; novel variant; splicing; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Pierre Robin / Pie Equinovaro Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza

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