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

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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Autores principales: Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
SRD5A3-CDG
steroid 5 alpha reductase deficiency
emerging phenotypic features
retinal dystrophy
congenital disorder of glycosylation
CDG
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac
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https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac

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