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A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in Gene.

作者信息

Park Chan Seong, Lee Jongeun, Byun Hyun Jeong, Lim Youngkyoung, Park Ji-Hye, Lee Jong Hee, Lee Dong-Youn, Lee Joo-Heung, Yang Jun-Mo, Lee Jee Hun, Yoo So-Young

机构信息

Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Ann Dermatol. 2019 Aug;31(Suppl):S12-S13. doi: 10.5021/ad.2019.31.S.S12. Epub 2019 Jul 1.

DOI:10.5021/ad.2019.31.S.S12
PMID:33911680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7997064/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e296/7997064/9ce9a35066e1/ad-31-S12-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e296/7997064/2b66486af4c7/ad-31-S12-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e296/7997064/9ce9a35066e1/ad-31-S12-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e296/7997064/2b66486af4c7/ad-31-S12-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e296/7997064/9ce9a35066e1/ad-31-S12-g002.jpg

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本文引用的文献

1
Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.透明纤维瘤病综合征：一种罕见的遗传性疾病。
Indian J Dermatol. 2016 Sep-Oct;61(5):580. doi: 10.4103/0019-5154.190129.
2
Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.青少年透明纤维瘤病与婴儿全身性透明变性重叠，并与毛细血管形态发生蛋白-2基因的新突变相关。
Am J Dermatopathol. 2007 Feb;29(1):99-103. doi: 10.1097/01.dad.0000245636.39098.e5.
3
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
毛细血管形态发生基因-2的突变会导致等位基因疾病青少年透明纤维瘤病和婴儿全身性透明变性。
Am J Hum Genet. 2003 Oct;73(4):957-66. doi: 10.1086/378781. Epub 2003 Sep 12.
4
Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor.人毛细血管形态发生蛋白2作为炭疽毒素受体发挥作用。
Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5170-4. doi: 10.1073/pnas.0431098100. Epub 2003 Apr 16.