Publications by authors named "Daniel Sanchez-Mendoza"
Article Synopsis
- * The study identifies a new autosomal dominant syndrome combining eye malformations, spine issues, and kidney problems in six different families, linked to mutations in a specific orphan nuclear receptor gene.
- * Genetic experiments demonstrated that these mutations disrupt normal development in zebrafish, highlighting the gene's crucial role in both eye and vertebra formation.
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe a novel autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities.
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