PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4). Here, we report a novel homozygous nonsense mutation in PGAP3 (c.265C>T-p.Gln89*), in a 3-year-old boy with unique novel clinic...

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Detalles Bibliográficos
Autores principales: Da’as, Sahar I., Aamer, Waleed, Hasan, Waseem, Al-Maraghi, Aljazi, Al-Kurbi, Alya, Kilani, Houda, AlRayahi, Jehan, Zamel, Khaled, Stotland, Mitchell A., Fakhro, Khalid A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569840/
https://www.ncbi.nlm.nih.gov/pubmed/32726939
http://dx.doi.org/10.3390/cells9081782

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569840/
https://www.ncbi.nlm.nih.gov/pubmed/32726939
http://dx.doi.org/10.3390/cells9081782

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