Clinical Images: Spotted bone: Incidental detection of a rare genetic disease.
作者信息
Ramirez David A, Bettendorf Brittany
机构信息
University of Iowa Hospitals and Clinics, Iowa City, IA.
出版信息
ACR Open Rheumatol. 2022 Mar;4(3):221-222. doi: 10.1002/acr2.11377. Epub 2021 Dec 1.
Abstract
摘要
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本文引用的文献
1
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor.患有种系LEMD3突变的骨斑点症在一名同时患有分泌性混合生殖细胞肿瘤的女孩中酷似骨转移。
J Pediatr Hematol Oncol. 2020 Apr;42(3):e185-e187. doi: 10.1097/MPH.0000000000001457.
2
Buschke-Ollendorff syndrome: a novel case series and systematic review.Buschke-Ollendorff 综合征：一个新的病例系列和系统评价。
Br J Dermatol. 2016 Apr;174(4):723-9. doi: 10.1111/bjd.14366. Epub 2016 Mar 8.
3
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.LEMD3功能丧失性突变会导致骨斑点症、布希克-奥伦多夫综合征和肢骨纹状肥大症。
Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17.
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