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Last Updated: 10/31/2025
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Found 67 publications
Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.
Journal: International journal of molecular sciences
Published: April 19, 2025
Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience.
Journal: Journal of clinical research in pediatric endocrinology
Published: April 11, 2025
Human Genetics of Ventricular Septal Defect.
Journal: Advances in experimental medicine and biology
Published: June 17, 2024
Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.
Journal: Cornea
Published: September 01, 2022
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Journal: Cold Spring Harbor molecular case studies
Published: November 29, 2021
Peter's anomaly-A homeotic gene disorder.
Journal: Acta paediatrica (Oslo, Norway : 1992)
Published: October 25, 2021
High-Throughput miRFluR Platform Identifies miRNA Regulating B3GLCT That Predict Peters' Plus Syndrome Phenotype, Supporting the miRNA Proxy Hypothesis.
Journal: ACS chemical biology
Published: June 04, 2021
Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ.
Journal: Glycobiology
Published: February 10, 2021
Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.
Journal: The Journal of biological chemistry
Published: February 10, 2021
Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes.
Journal: Orbit (Amsterdam, Netherlands)
Published: September 08, 2020
Last Updated: 10/31/2025