Associated Papers
Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.
Calder AD et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome.
Portales-Castillo I et al.
Communications Biology, 2023
Primary failure of tooth eruption: Etiology and management.
Yamaguchi T et al.
The Japanese Dental Science Review, 2022
Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.
Portales-Castillo I et al.
Jbmr Plus, 2022
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Demaret T et al.
Frontiers in Endocrinology, 2022
35846276 (PubMed )
Supplement: Table_3.xlsx › Table_2
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.
Guerreiro R et al.
Genes, Brain, and Behavior, 2016
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0
Select a paper to view details