Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 01/07/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 51 publications
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia.
Journal: Journal of medical genetics
Published: August 14, 2025
Cataract Surgery in Congenital Colobomatous Microphthalmia Associated With Intraorbital Cyst in an Adult.
Journal: Case reports in ophthalmological medicine
Published: March 05, 2025
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.
Journal: Genes
Published: December 30, 2024
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: November 28, 2024
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Journal: Research square
Published: November 28, 2024
Variants in NR6A1 cause a novel oculo vertebral renal syndrome.
Journal: Nature communications
Published: November 09, 2024
Bilateral colobomatous microphthalmia with unilateral orbital cyst
Journal: Journal francais d'ophtalmologie
Published: February 06, 2024
Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.
Journal: Ophthalmic plastic and reconstructive surgery
Published: April 10, 2023
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.
Journal: Ophthalmic genetics
Published: March 23, 2022
Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.
Journal: Clinical case reports
Published: January 11, 2022
Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
Journal: Clinical genetics
Published: June 24, 2020
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Journal: Nature communications
Published: February 26, 2018
Last Updated: 01/07/2026