Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels.

@article{Reis2016FailureOT,
  title={Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels.},
  author={Mariana Tenorio Antunes Reis and Diogo Toledo Matias and Maria Estela Justamante de Faria and Regina Matsunaga Martin},
  journal={Bone},
  year={2016},
  volume={85},
  pages={138-41}
}
BACKGROUND Pseudohypoparathyroidism (PHP) is a genetic disorder characterized by resistance to the peripheral action of PTH due to maternally inherited heterozygous inactivating mutations in the coding sequence of Gsα or intronic regions of GNAS leading to aberrant splice variants (PHP1A), or methylation defects at GNAS (PHP1B). Brachydactyly is a clinical feature associated with both PHP1A and PHP1B, although it is more frequent in PHP1A patients. Loss-of-function mutations in PTHLH, the gene… CONTINUE READING
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