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
2013
Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype
Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M. Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype. American Journal Of Medical Genetics Part A 2013, 161: 1300-1308. PMID: 23633440, DOI: 10.1002/ajmg.a.35906.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAdolescentAdultCalcification, PhysiologicCodon, NonsenseConsanguinityDehydroepiandrosteroneDehydroepiandrosterone SulfateDwarfismFemaleGenotypeGrowth DisordersHomozygoteHumansMaleMultienzyme ComplexesMusculoskeletal AbnormalitiesOsteochondrodysplasiasPedigreePhenotypeRadiographySequence Analysis, DNASulfate AdenylyltransferaseTurkeyConceptsDHEA sulfate levelsShort femoral neckShort halluxFemale patientsInsulin resistanceFemoral neckPlasma levelsIliac boneTestosterone levelsTurkish patientsCoxa varaPatientsVertebral bodyMetaphyseal abnormalitiesShort statureSkeletal dysplasiaEpiphyseal ossificationHyperandrogenismDysplasiaDehydroepiandrosteroneSulfate levelsTurkish familyNonsense mutationPAPSS2Androstenedione