Associated Papers
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
Obiezu F et al.
Jbmr Plus, 2025
Human diseases caused by homozygous PTH1R mutations.
Portales-Castillo I et al.
Frontiers in Endocrinology, 2025
Primary failure of tooth eruption: Etiology and management.
Yamaguchi T et al.
The Japanese Dental Science Review, 2022
Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?
Gabbett MT et al.
American Journal of Medical Genetics. Part A, 2020
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
Saito H et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.
Nampoothiri S et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
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.
Jelani M et al.
Archives of Oral Biology, 2016
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Savoldi G et al.
American Journal of Medical Genetics. Part A, 2013
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0
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