Case report of a child bearing a novel deleterious splicing variant in PIGT

RATIONALE: Trio family-based whole exome sequencing (WES) is a powerful tool in the diagnosis of rare neurodevelopmental diseases, even in patients with the unclear diagnosis. There have been previous reports of variants in the phosphatidylinositol glycan anchor biosynthesis class T (PIGT) gene asso...

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Detalles Bibliográficos
Autores principales: Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407924/
https://www.ncbi.nlm.nih.gov/pubmed/30813157
http://dx.doi.org/10.1097/MD.0000000000014524

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407924/
https://www.ncbi.nlm.nih.gov/pubmed/30813157
http://dx.doi.org/10.1097/MD.0000000000014524

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