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Last Updated: 10/31/2025
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Found 2775 publications
NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.
Journal: Ophthalmic genetics
Published: October 16, 2025
Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.
Journal: Investigative ophthalmology & visual science
Published: August 20, 2025
Ultra-Widefield OCT Angiography Imaging in Pediatric Microphthalmos Using Swept-Source OCT.
Journal: Ophthalmology. Retina
Published: July 22, 2025
Fingerprint Sign in Familial Microphthalmia Linked to Membrane Frizzled-Related Protein Mutation.
Journal: Ophthalmology. Retina
Published: July 09, 2025
A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.
Journal: Ophthalmic genetics
Published: June 29, 2025
The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome.
Journal: Arquivos de neuro-psiquiatria
Published: June 21, 2025
Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate.
Journal: Radiology case reports
Published: June 18, 2025
Successful surgical treatment of idiopathic tractional corectopia complicated by persistent pupillae membrane. Case report.
Journal: International journal of surgery case reports
Published: June 13, 2025
Successful treatment of congenital sideroblastic anemia with low-dose decitabine in a patient with NDUFB11 gene mutation (c.276_278del): A case report.
Journal: Current research in translational medicine
Published: June 11, 2025
Posterior Microphthalmos with Papillomacular Retinal Folds and Pseudo Disc Edema.
Journal: Kathmandu University medical journal (KUMJ)
Published: June 04, 2025
Last Updated: 10/31/2025