Publications by authors named "Jorge A Rojas Martinez"
Article Synopsis
- - This study investigates pain, quality of life, and healthcare access for Colombian patients with hypophosphatasia (HPP), a genetic disease that varies greatly in severity.
- - Using three specific questionnaires, the research analyzed 18 HPP patients, revealing that issues related to overall health, vitality, and pain were prominent among participants.
- - Findings indicated that patients generally experienced mild to moderate pain and impairment in their quality of life, impacting daily activities, but with notable variability in individual responses.
The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.
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