A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R
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The parathyroid hormone receptor 1 (PTH1R) transmits stimuli provided by parathyroid hormone (PTH) and PTH-related protein (PTHrP) and thus plays key roles in calcium and phosphate homeostasis as well as skeletal development. Variants in PTH1R have been linked... ...
