Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up
Tüysüz B, Yılmaz S, Kasapçopur Ö, Erener-Ercan T, Ceyhun E, Bilguvar K, Günel M. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. Rheumatology International 2014, 34: 1539-1544. PMID: 24816859, DOI: 10.1007/s00296-014-3037-8.Peer-Reviewed Original ResearchConceptsRadiological findingsClinical findingsDigital clubbingHPGD geneYears of agePrimary hypertrophic osteoarthropathyMonths of ageHomozygous deletionPainful swellingHypertrophic osteoarthropathyInfantile periodPalmoplantar hyperkeratosisHand radiographsOssification defectsHomozygous mutationIntrafamilial variabilityLate childhoodAgePatientsClubbingMonthsFindingsSiblingsExon 3Years