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

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

JAMA ophthalmology - 1 Aug 2014

Awadalla Mona S, Burdon Kathryn P, Souzeau Emmanuelle, Landers John, Hewitt Alex W, Sharma Shiwani, Craig Jamie E

Abstract excerpt

IMPORTANCE: Nanophthalmos is a congenital disorder characterized by small eyes, with the main complications being severe hyperopia and angle-closure glaucoma. OBJECTIVE: To perform a clinical and genetic investigation of a large white family with autosomal dominant nanophthalmos. DESIGN, SETTING, AND PARTICIPANTS: Detailed clinical evaluation and a genome-wide linkage scan was conducted in the family NNO-SA1....

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Genetic Linkage

Share to Glaucoma, Angle-Closure

Share to Membrane Proteins

Share to Microphthalmos

Source

Identifiers

PMID: 24852644
DOI: 10.1001/jamaophthalmol.2014.946

Genes

TMEM98

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.PMID 24852644Read ↗

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.Semantic proximity Read ↗

Nanophthalmos: A Review of the Clinical Spectrum and GeneticsSemantic proximity Read ↗

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohortSemantic proximity Read ↗

The genetic and clinical landscape of nanophthalmos in an Australian cohortSemantic proximity Read ↗

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.Semantic proximity Read ↗

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouseSemantic proximity Read ↗

Clinical features of patients with mutations in genes for nanophthalmos.Semantic proximity Read ↗

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.Semantic proximity Read ↗

Genetic investigation of 93 families with microphthalmia or posterior microphthalmosSemantic proximity Read ↗

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Semantic proximity Read ↗

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.Semantic proximity Read ↗

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.Semantic proximity Read ↗

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