Görükmez, ÖzlemCarrillo, JaimePerona, R.2023-11-232023-11-232016Sağ, Ş. Ö. vd. (2016). "Dyskeratosis congenita: A case report". Genetic Counseling, 27(2), 263-267.1015-8146http://hdl.handle.net/11452/34992eninfo:eu-repo/semantics/closedAccessBiotechnology & applied microbiologyGenetics & heredityMedical ethicsResearch & experimental medicineTelomerase componentMutationsDKC1AdultCell cycle proteinsDyskeratosis congenitaHumansMaleNuclear proteinsYoung adultLetter0003801785000182-s2.0-8501620606626326727229485835Biotechnology & applied microbiologyGenetics & heredityMedical ethicsMedicine, research & experimentalCell cycle proteinDKC1 protein, humanNuclear proteinAdultAnemiaBone marrow depressionCase reportDental cariesDyskeratosis congenitaEsophagus stenosisEsophagus varicesFinger dermatoglyphicsGene mutationHeterozygoteHumanLetterLeukoplakiaLive birthMaleNail dystrophyPancytopeniaPeriodontal diseasePortal hypertensionSkin pigmentationSplenomegalyYoung adultDyskeratosis congenitaGeneticsPathology