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Article

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

BMC medical genetics - 16 Jan 2014

Kara Bülent, Ayhan Özgecan, Gökçay Gülden, Başboğaoğlu Nurdan, Tolun Aslıhan

Abstract excerpt

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. CASE PRESENTATION: We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia. We found the candidate disease loci via linkage analysis using data from single nucleotide...

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Identifiers

PMID: 24433453
DOI: 10.1186/1471-2350-15-10
PMCID: PMC3898029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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