In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma,...
Study highlights importance of genetic sequencing to diagnosis of growth disorders retrieved 19 February 2024 from https://medicalxpress.com/news/2024-02-highlights-importance-genetic-sequencing-diagnosis.html
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