References

1. Kousal B, Honzik T, Hansikova H, Ondrušková N, Čechová A, Tesařová M, et al. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case. Folia biologica. 2019;65:134-41.
2. Gupta N, Verma G, Kabra M, Bijarnia-Mahay S, Ganapathy A. Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing. Indian J Med Res. 2018;147(4):422-6.
3. Jaeken J, Lefeber DJ, Matthijs G. SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card. European Journal of Human Genetics. 2020;28(9):1297-300.
4. Moeini Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani SA, et al. Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature. Frontiers in Immunology. 2022;12.
5. Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11(1):159-.
6. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010;142(2):203-17.
7. Kamarus Jaman N, Rehsi P, Henderson RH, Löbel U, Mankad K, Grunewald S. SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype. Front Genet. 2021;12:737094-.
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9. Genetic and Rare Diseases Information Center. SRD5A3-CDG (CDG-Iq) - About the Disease 2022 [Available from: https://rarediseases.info.nih.gov/diseases/12397/srd5a3-cdg-cdg-iq.