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

BACKGROUND: Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and SOPH syndrome with its cardinal symptoms of sh...

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Detalles Bibliográficos
Autores principales: Priglinger, Claudia S., Rudolph, Günter, Schmid, Irene, Mazzola, Pascale, Haack, Tobias B., Reith, Milda, Stingl, Katarina, Weisschuh, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009903/
https://www.ncbi.nlm.nih.gov/pubmed/36479642
http://dx.doi.org/10.1002/mgg3.2120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009903/
https://www.ncbi.nlm.nih.gov/pubmed/36479642
http://dx.doi.org/10.1002/mgg3.2120

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