Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.

Ophthalmic genetics - 1 Jun 2026

Tawfik Caroline Atef, Zaitoun Raghda, Sabry Sahar, Essawi Mona Lofti, Elbagoury Nagham

Abstract excerpt

PURPOSE: To characterize an undiagnosed patient with retinal dystrophy, ataxia, and neurodevelopmental delay. MATERIALS AND METHODS: A 13-year-old female patient presenting with nystagmus and defective vision since infancy, underwent ophthalmological, neurological examination, ultra-wide field fundus photography, autofluorescence and electroretinogram. Exome sequencing (ES) was done followed by segregation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Exome Sequencing

Share to Glycosylation

Share to Mutation, Missense

Share to Retinal Dystrophies

Source

Identifiers

PMID: 41667393
DOI: 10.1080/13816810.2026.2623106

Genes

SRD5A3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.PMID 41667393Read ↗

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Adult phenotype and further phenotypic variability in SRD5A3-CDG.Semantic proximity Read ↗

SRD5A3-CDG: a patient with a novel mutation.Semantic proximity Read ↗

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Semantic proximity Read ↗

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.Semantic proximity Read ↗

Congenital disorders of glycosylation with emphasis on cerebellar involvement.Semantic proximity Read ↗

Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study.Semantic proximity Read ↗

Neurology of inherited glycosylation disorders.Semantic proximity Read ↗

Congenital Disorders of Glycosylation from a Neurological PerspectiveSemantic proximity Read ↗

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.Semantic proximity Read ↗

SRD5A3-CDG: Twins with an intragenic tandem duplication.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.