Associated Papers
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ et al.
Bone, 2024
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
Ferreira CR et al.
Annual Review of Pathology, 2024
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.
Kato H et al.
Current Osteoporosis Reports, 2023
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.
Chunn LM et al.
Orphanet Journal of Rare Diseases, 2022
36461014 (PubMed )
Supplement: 13023_2022_2577_MOESM2_ESM.xlsx › Supplemental_Table_1
Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.
Kato H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture.
Furukawa H et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Toyama M et al.
Plos One, 2022
35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33005041 (PubMed )
Supplement: NIHMS1634645-supplement-Table_S1.xlsx › Predicted_non-pathogenic
Select a paper to view details