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

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