狄蘭氏症候群精準檢測套組
狄蘭氏症候群（Cornelia de Lange Syndrome, CdLS）是典型的遺傳性症候群，特點為智能障礙、明顯的面部特徵、上肢異常、產前及產後生長遲滯以及其他病徵和症狀。
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A. M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., … Hennekam, R. C. (2018). Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature reviews. Genetics, 19(10), 649–666. https://doi.org/10.1038/s41576-018-0031-0
Boyle, M. I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A. M., & Tümer, Z. (2015). Cornelia de Lange syndrome. Clinical genetics, 88(1), 1–12. https://doi.org/10.1111/cge.12499
Sarogni, P., Pallotta, M. M., & Musio, A. (2020). Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. Journal of medical genetics, 57(5), 289–295. https://doi.org/10.1136/jmedgenet-2019-106277
Huisman, S., Redeker, E., Maas, S., Mannens, M., & Hennekam, R. (2013). High rate of mosaicism in individuals with Cornelia de Lange syndrome. Journal Of Medical Genetics, 50(5), 339-344. doi: 10.1136/jmedgenet-2012-101477
Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P., … Krantz, I. D. (2019). Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A, 179(2), 150–158. https://doi.org/10.1002/ajmg.a.61033
