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

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Ophthalmic genetics - 1 Sept 2011

Khan Arif O, Aldahmesh Mohammed A, Al-Abdi Lama, Mohamed Jawahir Y, Hashem Mais, Al-Ghamdi Ismael, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To characterize the underlying genetic defect in otherwise healthy Saudi newborns with buphthalmos, including those with iris abnormalities. METHODS: Prospective case series of affected Saudi Arabian probands who were referred for genetic counseling over a 4 year period. All had CYP1B1 sequencing. Selected patients with visible iris abnormalities had PAX6, FOXC1, and PITX2 sequencing. CYP1B1-negative...

Read the complete abstract on PubMed

Topics

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

Share to Aniridia
Share to Cornea
Share to Cytochrome P-450 CYP1B1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeobox Protein PITX2

Share to Latent TGF-beta Binding Proteins

Share to Paired Box Transcription Factors

Share to PAX6 Transcription Factor

Source

Identifiers

PMID: 21306220
DOI: 10.3109/13816810.2010.544365

Genes

LTBP2
FOXC1
PAX6
PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.PMID 21306220Read ↗

Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.Semantic proximity Read ↗

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.Semantic proximity Read ↗

A novel CYP1B1 mutation with congenital glaucoma and total aniridia.Semantic proximity Read ↗

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.Semantic proximity Read ↗

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.Semantic proximity Read ↗

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Semantic proximity Read ↗

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.Semantic proximity Read ↗

Genetics of primary glaucoma.Semantic proximity Read ↗

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.Semantic proximity Read ↗

Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene MutationsSemantic proximity Read ↗

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.Semantic proximity Read ↗

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.Semantic proximity Read ↗

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