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

A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.

Clinical pediatrics - 1 Nov 2023

Xia Jiali, Liu Min, Luo Xingli, Yang Hong, Yu Ling

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Eye Diseases
Share to Iduronidase
Share to Mucopolysaccharidosis I
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Siblings

Source

Identifiers

PMID: 36951468
DOI: 10.1177/00099228231160832

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

A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.PMID 36951468Read ↗

A novel mutation in PRDM5 in brittle cornea syndrome.Semantic proximity Read ↗

Common MCAD mutation in a healthy parent of two affected siblings.Semantic proximity Read ↗

Liddle syndrome in a Serbian family and literature review of underlying mutationsSemantic proximity Read ↗

Liddle syndrome phenotype in an octogenarian.Semantic proximity Read ↗

A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.Semantic proximity Read ↗

Danon disease. A novel mutation in the LAMP-2 gene and ophthalmic abnormality.Semantic proximity Read ↗

Patient with iDEND syndrome-related mutation.Semantic proximity Read ↗

De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.Semantic proximity Read ↗

Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa.Semantic proximity Read ↗

Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

ADCY5 identified as a novel cause of benign hereditary chorea.Semantic proximity Read ↗

Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.Semantic proximity Read ↗

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