2018
Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome
Yilmaz S, Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B. Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome. Molecular Genetics & Genomic Medicine 2018, 6: 230-248. PMID: 29397575, PMCID: PMC5902402, DOI: 10.1002/mgg3.364.Peer-Reviewed Original ResearchConceptsCoxa vara-pericarditis (CACP) syndromeCoxa varaCommon childhood rheumatic diseaseIncreased pain levelSevere hip involvementChildhood rheumatic diseasesJuvenile idiopathic arthritisDevelopmental coxa varaRare autosomal recessive conditionYears of ageUnrelated familiesWhole-exome sequencingAutosomal recessive conditionHip involvementIdiopathic arthritisMost patientsPain levelsRadiological findingsPleural effusionJoint involvementNoninflammatory arthropathyRheumatic diseasesNovel genomic alterationsFirst symptomsCACP syndrome
2014
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