Disease: Chondrodysplasia- blomstrand type
- A new acro-osteolysis syndrome caused by duplications including PTHLH
- Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction
- Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia
- Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism
- Genetics of hypoparathyroidism and pseudohypoparathyroidism
- Hypoparathyroidism and Pseudohypoparathyroidism
- Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance
- Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption
- Loss of function of parathyroid hormone receptor 1 induces Notch-dependent aortic defects during zebrafish vascular development
- Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis
- PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development
- Rat wild-type parathyroid hormone receptor (PTH-R) and mutant PTH-R(P132L) show the different intracellular localization in vitro
- Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
- Tackling the number-one killer in my community
- The PTH/PTHrP receptor: biological implications
- Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases