Publications by authors named "F Falix"
Verheij syndrome [VRJS; OMIM 615583] is a rare autosomal dominant neurodevelopmental disorder characterized by distinct clinical features, including growth retardation, intellectual disability, cardiac, and renal anomalies. VRJS is caused by deletions of chromosome 8q24.3 or pathogenic variants in the PUF60 gene.
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- There are significant global disparities in access to genetic services, prompting the establishment of a joint pediatric-genetics clinic in the Dutch Caribbean in 2011, which aimed to address these challenges.
- A study of 331 patients who underwent genetic testing from 2011 to 2019 revealed that 33% received a confirmed molecular diagnosis, with the highest diagnostic yield noted in patients experiencing seizures and developmental issues.
- The findings indicated that genetic diagnoses led to significant changes in clinical management for 52% of patients, illustrating that even with limited resources, effective genetic services can improve patient care and outcomes.
Unlabelled: This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.
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