Adult phenotype and further phenotypic variability in SRD5A3-CDG.


KARA B., Ayhan O., Gokcay G. F., Basbogaoglu N., TOLUN A.

BMC medical genetics, vol.15, pp.10, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15
  • Publication Date: 2014
  • Doi Number: 10.1186/1471-2350-15-10
  • Journal Name: BMC medical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.10
  • Keywords: SRD5A3, SRD5A3, CDG, CDG, Glycosylation defect, HOMOZYGOUS FRAMESHIFT MUTATION, AUTOSOMAL RECESSIVE SYNDROME, CONGENITAL DISORDER, GLYCOSYLATION, ABNORMALITIES, CDG, POLYPRENOL, DOLICHOL, FAMILY
  • Istanbul University Affiliated: Yes

Abstract

Background: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating.