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
Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature review.
Li J et al.
Bmc Pediatrics, 2025
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.
Lu Q et al.
International Journal of Biological Sciences, 2022
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
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
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
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