Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism

ABSTRACT Consistent with a vital role of parathyroid hormone (PTH) receptor type 1 (PTH1R) in skeletal development, homozygous loss‐of‐function PTH1R mutations in humans results in neonatal lethality (Blomstrand chondrodysplasia), whereas such heterozygous mutations cause a primary failure of tooth...

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Bibliographic Details
Published in:JBMR Plus
Main Authors: Ignacio Portales‐Castillo, Thomas Dean, Ashok Khatri, Harald Jüppner, Thomas J Gardella
Format: Article
Language:English
Published: Oxford University Press 2022-06-01
Subjects:
HYPERPHOSPHATEMIA
HYPOCALCEMIA
PARATHYROID
PRIMARY FAILURE OF TOOTH ERUPTION
PSEUDOHYPOPARATHYROIDISM
PTH
Online Access:https://doi.org/10.1002/jbm4.10604

Internet

https://doi.org/10.1002/jbm4.10604

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