선천성 각하이상증(Dyskeratosis Congenital) 정밀 패널
선천성 각하이상증(DKC)는 그물 모양의 피부 과다색소침착, 손발톱이상증 및 구강백반증이 특징인 희귀한 진행성 골수 부전 증후군입니다. 선천성 각하이상증 환자는 일반적으로 생후 첫 10년 동안 피부 과다색소침착과 손발톱 변화의 증상을 보입니다.

Stoopler, E. T., & Shanti, R. M. (2019). Dyskeratosis Congenita. Mayo Clinic proceedings, 94(9), 1668–1669. https://doi.org/10.1016/j.mayocp.2019.04.032
Niewisch, M. R., & Savage, S. A. (2019). An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert review of hematology, 12(12), 1037–1052. https://doi.org/10.1080/17474086.2019.1662720
AlSabbagh M. M. (2020). Dyskeratosis congenita: a literature review. Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 18(9), 943–967. https://doi.org/10.1111/ddg.14268
Jyonouchi, S., Forbes, L., Ruchelli, E., & Sullivan, K. (2011). Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum – a single-center pediatric experience. Pediatric Allergy And Immunology, 22(3), 313-319. doi: 10.1111/j.1399-3038.2010.01136.x
Ballew, B., & Savage, S. (2013). Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Review Of Hematology, 6(3), 327-337. doi: 10.1586/ehm.13.23
Bessler, M., Du, H., Gu, B., & Mason, P. (2007). Dysfunctional telomeres and dyskeratosis congenita. Haematologica, 92(8), 1009-1012. doi: 10.3324/haematol.11221
Touzot, F., Gaillard, L., Vasquez, N., Le Guen, T., Bertrand, Y., & Bourhis, J. et al. (2012). Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. Journal Of Allergy And Clinical Immunology, 129(2), 473-482.e3. doi: 10.1016/j.jaci.2011.09.043