Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

Congenital disorders of glycosylation (CDGs) are a wide group of genetic diseases characterised by a severe clinical spectrum, consisting of developmental delays, dysmorphisms, and neurological deficits. Mutations in the PIGV gene lead to a disorder called hyperphosphatasia with impaired intellectua...

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Detalles Bibliográficos
Autores principales: Hutny, Michal, Lipinski, Patryk, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298423/
https://www.ncbi.nlm.nih.gov/pubmed/37372388
http://dx.doi.org/10.3390/genes14061208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298423/
https://www.ncbi.nlm.nih.gov/pubmed/37372388
http://dx.doi.org/10.3390/genes14061208

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