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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 ,

UT Southwestern partners with Pfizer on RNA delivery tech

UT Southwestern Medical Center partners with Pfizer to advance RNA-enhanced delivery technologies for genetic medicine therapies ....

Ut Southwestern Medical Center , Medical Center , Medical Center ,