PMID 24433453 2014 Adult phenotype and further phenotypic variability in SRD5A3-CDG.
PMID 20700148 2011 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
PMID 20852264 2010 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
PMID 27480077 2016 SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
PMID 26219881 2016 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
PMID 27480077 2016 SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
PMID 20852264 2010 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
PMID 28253385 2017 Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
PMID 20637498 2010 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
PMID 20700148 2011 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
PMID 26219881 2016 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.