SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis. Additional symptoms are still poorly defined. In this case study, we discuss...

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Detalles Bibliográficos
Autores principales: Kamarus Jaman, Nazreen, Rehsi, Preeya, Henderson, Robert H., Löbel, Ulrike, Mankad, Kshitij, Grunewald, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671882/
https://www.ncbi.nlm.nih.gov/pubmed/34925443
http://dx.doi.org/10.3389/fgene.2021.737094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671882/
https://www.ncbi.nlm.nih.gov/pubmed/34925443
http://dx.doi.org/10.3389/fgene.2021.737094

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