A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report

Steroid 5α‐reductase type 3 congenital disorder of glycosylation (SRD5A3‐CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a seven‐yea...

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Detalles Bibliográficos
Autores principales: Nabavizadeh, Sayyed Hesamedin, Noeiaghdam, Rafat, Johari, Leila, Hosseini, Seyed Ali, Esmaeilzadeh, Hossein, Alyasin, Soheila Sadat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684675/
https://www.ncbi.nlm.nih.gov/pubmed/36439385
http://dx.doi.org/10.1002/ccr3.6564

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