Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation-Reference-Cited by-同舟云学术

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

Published:2015 Issue: Volume: Page:7-12
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Tuysuz Beyhan,Pehlivan Davut,Özkök Ahmet,Jhangiani Shalini,Yalcinkaya Cengiz,Zeybek Çiğdem Aktuğlu,Muzny Donna Marie,Lupski James R.,Gibbs Richard,Jaeken Jaak

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_478

Reference12 articles.

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2. Assmann B, Hackler R, Peters V, Schaefer JR, Arndt T, Mayatepek E et al (2001) A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. Neuropediatrics 32:313–318

3. Cantagrel V, Lefeber DJ, Ng BG et al (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 142:203–217

4. Gründahl JEH, Guan Z, Rust S et al (2012) Life with too much polyprenol: polyprenol reductase deficiency. Mol Genet Metab 105:642–651

5. Kahrizi K, Najmabadi H, Kariminejad R et al (2009) An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet 17:125–128

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3. SRD5A3-CDG: Twins with an intragenic tandem duplication;European Journal of Medical Genetics;2022-05

4. SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype;Frontiers in Genetics;2021-12-01

5. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population;The American Journal of Human Genetics;2021-10