Associated Papers
Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2025
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D et al.
Calcified Tissue International, 2025
Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review.
Li J et al.
Bmc Pediatrics, 2025
Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort.
Li M et al.
Bmc Pediatrics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.
Lu Q et al.
International Journal of Biological Sciences, 2022
Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation.
Li Y et al.
Stem Cell Research, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation.
Pang Q et al.
Endocrine Connections, 2019
Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea.
Ryu MR et al.
Annals of Laboratory Medicine, 2019
Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.
Chen Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
A novel mutation in the HPGD gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis.
Stephan C et al.
Jaad Case Reports, 2018
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
Khan AK et al.
Annals of Human Genetics, 2018
[Identification of a HPGD mutation in three families affected with primary hypertrophic osteoarthropathy].
Zhang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].
Liu XG et al.
Zhonghua Nei Ke Za Zhi, 2017
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.
Yuan L et al.
Calcified Tissue International, 2015
[Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy].
Wang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.
Erken E et al.
Modern Rheumatology, 2015