この記事のまとめ
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病気の別称
疾患概要
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diseasedescription,epidemiology
病因と診断の方法
etiology
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diagnostic methods,Genetic counseling,Antenatal diagnosis
疾患の症状と管理方法
clinicaldescription,managementandtreatment
将来の見通し
prognosis.future outlook. survivability rate of unborn~young child. are there examples of adults living.
もっと知りたい方へ
遺伝性疾患プラス. 1p36欠失症候群記事
【写真あり・英語】ユニーク(Unique)による【★★★★★★★】に関する情報シート
【写真あり・英語】
引用文献
- Orphanet. (Last updated June 2021). 1p36 deletion syndrome. Reviewed by Prof. Agatino Battaglia. Retrieved from LINK
- Online Mendelian Inheritance in Man. (Last updated November 2021 by Anne M. Stumpf). Retreived from https://omim.org/entry/180500
- Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., & Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https://doi.org/10.1093/nar/gkae974
- Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., … Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891–D899. https://doi.org/10.1093/nar/gkad1049