A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

GM3 synthase deficiency is associated with salt and pepper developmental regression syndrome (SPDRS), a rare genetic disorder. Herein, we report the first Iranian patient with SPDRS. We detected a novel pathogenic variant of ST3GAL5 (NM_003896.4: c.1030_1031del, p.Ile344Cysfs*11). The proband had in...

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Detalles Bibliográficos
Autores principales: Manoochehri, Jamal, Dastgheib, Seyed Alireza, Khamirani, Hossein Jafari, Mollaie, Maryam, Sharifi, Zahra, Zoghi, Sina, Tabei, Seyed Mohammad Bagher, Mohammadi, Sanaz, Dehghanian, Fatemeh, Farbod, Zahra, Dianatpour, Mehdi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8361121/
https://www.ncbi.nlm.nih.gov/pubmed/34385424
http://dx.doi.org/10.1038/s41439-021-00164-8

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