Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D et al.
Calcified Tissue International, 2025
Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.
Lu Q et al.
International Journal of Biological Sciences, 2022
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.
Radhakrishnan P et al.
Clinical Dysmorphology, 2020
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
Pachydermoperiostosis: The value of molecular diagnosis.
Seta V et al.
Annales De Dermatologie Et De Venereologie, 2017
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.
Erken E et al.
Modern Rheumatology, 2015
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.
Bergmann C et al.
Experimental Dermatology, 2011
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
Diggle CP et al.
Rheumatology (oxford, England), 2010
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
Seifert W et al.
European Journal of Human Genetics : Ejhg, 2009
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.
Yüksel-Konuk B et al.
Rheumatology International, 2009
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
Tariq M et al.
Journal of Medical Genetics, 2009
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
Uppal S et al.
Nature Genetics, 2008
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