Study finds significance of genetic sequencing to diagnose growth disorders | Health
The study highlights the need to use broad genetic tests such as whole exome or whole genome sequencing to identify the rare diseases. | Health
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The study highlights the need to use broad genetic tests such as whole exome or whole genome sequencing to identify the rare diseases. | Health
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, mildly altered blood sugar, and a history of recurring infections in infancy.
Analyzing data from 115 children with syndromic conditions revealed a significant occurrence of overlapping genetic alterations.
Get latest articles and stories on Science at LatestLY. Brazilian researchers described the case of a nine-year-old boy admitted to the hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, including short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy. Science News | Study Gives Insight into Significance of Genetic Sequencing to Diagnosis of Growth Disorders.
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