Clinical report outlines health supervision recommendations for patients with achondroplasia
1. In this report, the American Academy of Pediatrics (AAP) provides updated guidelines on diagnosis, genetic counseling, medical evaluation, and ...
Tag: autosomal dominant
New mutations behind heritable hypercalcemia and hypocalcemia identified
Image: PD G protein coupled receptor 1. Loss-of-function mutations in Gɑ11 cause type 2 familial hypocalciuric hypercalcemia. 2. Gain-of-function mutations ...
