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Study highlights importance of genetic sequencing to diagnosis of growth disorders

Study highlights importance of genetic sequencing to diagnosis of growth disorders
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Raissa Carneiro Rezende , Paulo Medical School , Medical School , Alexander Augusto De Lima Jorge , Lima Jorge , Syndromic Growth Disorders ,

Exome sequencing unravels complex genetic diagnoses in growth disorders

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. ....

Paulo Medical School , Paulo Research Foundation , Medical School , Augusto De Lima Jorge , Lima Jorge , Blood Sugar , Exome Sequencing , Medical School , T Cell , Tooth Enamel , Whole Genome Sequencing ,

Genetic Sequencing Breakthroughs in Diagnosing Growth Disorders

Analyzing data from 115 children with syndromic conditions revealed a significant occurrence of overlapping genetic alterations. ....

Paulo Medical School , Medical School , Diagnosing Rare Conditions , Alexander Augusto De Lima Jorge , Lima Jorge , Growth Disorders , Genome Sequencing , Rare Diseases ,

Science News | Study Gives Insight into Significance of Genetic Sequencing to Diagnosis of Growth Disorders

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. ....

Sao Paulo , University Of Sao Paulo Medical School , Medical School , Alexander Augusto De Lima Jorge , Lima Jorge ,