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Connor P. Barnhill on Muck Rack

Connor P. Barnhill

As seen in: The American Journal of Human Genetics
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Articles

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia

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By Jeremy B. Chang, Alexander Apostolov, Marcus M. Soliai, Julian Hecker, Jovia L. Nierenberg, Arun Mathew, Xue Zeng, C. Fernando, Qingwen Chen, Ben W. Dulken, Russ B. Altman, Tracy M Josephs, Jessica Lasky-Su, Caroline M. Gorvin, Mary Roberts, Scott Adler, Jonathan Fox, Christoph Lange, Sun-Gou Ji, Connor P. Barnhill, Jiayin Diao, Aleksandr Petukhov
| The American Journal of Human Genetics Verified
Keywords autosomal-dominant hypocalcemia type 1 ADH1 rare disease incomplete penetrance variable expressivity Mendelian disorder monogenic disorder hypoparathyroidism hypocalcemia symptom burden Introduction An estimated 1 in 10 people suffer from a rare disease, and 72% of these diseases are thought to have a genetic basis.1,2 Nevertheless, precise estimation of the symptom burden (i.e., number and severity of symptomatic individuals) of rare genetic disease is challenging given potential...
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