엘러스-단로스 증후군(Ehlers-Danlos Syndrome) 정밀 패널
엘러스-단로스 증후군(EDS)은 유전적 결함이 콜라겐과 결합조직합성 및 구조에 영향을 미치는 결합조직장애의 임상적적으로 그리고 유전적으로 이질적인 그룹입니다. 엘러스-단로스 증후군은 운동 과잉증, 피부 유약증 및 과신장성이 특징입니다.

Scheper MC, Nicholson LL, Adams RD, Tofts L, Pacey V. The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study. Rheumatology (Oxford).
Malfait, F., Wenstrup, R. J., & De Paepe, A. (2010). Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genetics in medicine: official journal of the American College of Medical Genetics, 12(10), 597–605. https://doi.org/10.1097/GIM.0b013e3181eed412
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel-Gigleux, S., Frank, M., Ghali, N., Giunta, C., … Tinkle, B. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American journal of medical genetics. Part C, Seminars in medical genetics, 175(1), 8–26. https://doi.org/10.1002/ajmg.c.31552
De Paepe, A., & Malfait, F. (2012). The Ehlers-Danlos syndrome, a disorder with many faces. Clinical genetics, 82(1), 1–11. https://doi.org/10.1111/j.1399-0004.2012.01858.x
Ritelli, M., & Colombi, M. (2020). Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders. Genes, 11(5), 547. https://doi.org/10.3390/genes11050547
Miller, E., & Grosel, J. M. (2020). A review of Ehlers-Danlos syndrome. JAAPA : official journal of the American Academy of Physician Assistants, 33(4), 23–28. https://doi.org/10.1097/01.JAA.0000657160.48246.91