Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.

Priglinger, Claudia S; Rudolph, Günter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole

Priglinger, Claudia S; Rudolph, Günter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole.

Afiliación

Priglinger CS; University Eye Hospital, Ludwig Maximilians University of Munich, Munich, Germany.
Rudolph G; University Eye Hospital, Ludwig Maximilians University of Munich, Munich, Germany.
Schmid I; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
Mazzola P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Reith M; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Stingl K; Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.
Weisschuh N; Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.

Mol Genet Genomic Med ; 11(3): e2120, 2023 03.

Article en En | MEDLINE | ID: mdl-36479642

Asunto(s)

Distrofia del Cono; Enanismo; Fallo Hepático Agudo; Neuroblastoma; Atrofia Óptica; Anomalía de Pelger-Huët; Humanos; Anomalía de Pelger-Huët/diagnóstico; Anomalía de Pelger-Huët/genética; Anomalía de Pelger-Huët/patología; Atrofia Óptica/genética; Fallo Hepático Agudo/diagnóstico; Fallo Hepático Agudo/genética; Enanismo/genética; Fenotipo

Palabras clave

NBAS; RNA analysis; SOPH syndrome; cone dystrophy; non-canonical splice site variant; optic atrophy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalía de Pelger-Huët / Atrofia Óptica / Fallo Hepático Agudo / Enanismo / Distrofia del Cono / Neuroblastoma Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: Alemania

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