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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Nat Commun
October 2024
Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to disease burden, characterising their impact on gene function and phenotype remains challenging. Furthermore, little is known of the nature and extent of their contribution to AMC phenotypes.
View Article and Find Full Text PDFDetermining Asymmetry Thresholds in Anophthalmia/Microphthalmia Using a Three-dimensional Animated Model.
Ophthalmic Plast Reconstr Surg
June 2024
Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam Orbital Center, Amsterdam, Netherlands.
Purpose: Congenital microphthalmia and anophthalmia are rare development disorders with underdevelopment of the orbital region, resulting in asymmetry of the face. No clear guidelines exist to determine when these deviations are acceptable.
Methods: The face of a healthy 6-year-old child was three-dimensionally scanned.
A founder variant expands the phenotype of WNT7B-related PDAC syndrome.
Clin Genet
July 2024
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Article Synopsis
- - Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetic condition characterized by multiple congenital malformations, with known causes including mutations in the RARB and STRA6 genes, although many cases lack clear genetic explanations.
- - Recent research identified a new cause linked to biallelic variants in the WNT7B gene, discovered in several families exhibiting typical PDAC features but with variations in symptoms.
- - This study presents three patients from two families with a specific WNT7B variant (c.739C > T; Arg247Trp), further supporting the gene's role in PDAC by
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