Research graph
References from Eiken syndrome presenting as pseudohypoparathyroidism due to PTH1R gene pathogenic variant. Local targets link to admitted publications; unresolved targets remain external evidence.
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues
10.1038/nrendo.2016.52 · 2016 · External reference
Molecular definitions of pseudohypoparathyroidism variants
10.1210/clinem/dgab060 · 2021 · External reference
Albright's hereditary osteodystrophy and pseudohypoparathyroidism
10.1055/s-2002-36726 · 2002 · External reference
Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for basal ganglia calcification in hypoparathyroidism
10.1210/jc.2013-3863 · 2014 · External reference
Fahr syndrome secondary to pseudohypoparathyroidism
2023 · External reference
A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet
10.1007/bf00572767 · 1984 · External reference
Report of second case and clinical and molecular characterization of Eiken syndrome
10.1111/cge.13413 · 2018 · External reference
Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis
10.1093/jbmr/zjae148 · 2024 · External reference
Case report: inactivating PTH/PTHrP signaling disorder type 1 presenting with PTH resistance
10.3389/fendo.2022.928284 · 2022 · External reference
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
10.1530/eje-16-0107 · 2016 · External reference
Diagnosis and management of pseudohypoparathyroidism and related disorders: first International Consensus Statement
10.1038/s41574-018-0042-0 · 2018 · External reference
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
10.1093/hmg/ddi001 · 2005 · External reference
The third family with Eiken syndrome
10.1111/cge.13601 · 2019 · External reference
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family
10.1016/j.archoralbio.2016.03.012 · 2016 · External reference
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption
10.1016/j.ajhg.2008.11.006 · 2008 · External reference
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation
10.1111/gbb.12308 · 2016 · External reference
Current nomenclature of pseudohypoparathyroidism: inactivating parathyroid hormone/parathyroid hormone-related protein signaling disorder
2017 · External reference
