• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.

作者信息

Jin Hyung Suk, Song Ho Young, Cho Sung Yoon, Ki Chang Seok, Yang Song Hyun, Kim Ok Hwa, Kim Su Jin

机构信息

Green Cross Laboratories, Yongin, Korea.

Department of Pediatrics, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea.

出版信息

Ann Lab Med. 2017 Jan;37(1):92-94. doi: 10.3343/alm.2017.37.1.92.

DOI:10.3343/alm.2017.37.1.92
PMID:27834076
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5107629/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8823/5107629/46285b0afe6b/alm-37-92-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8823/5107629/d494dd02e5e3/alm-37-92-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8823/5107629/46285b0afe6b/alm-37-92-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8823/5107629/d494dd02e5e3/alm-37-92-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8823/5107629/46285b0afe6b/alm-37-92-g002.jpg

相似文献

1
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.由FBN1基因新的杂合突变引起的肢端短小发育不良及生长激素治疗的效果
Ann Lab Med. 2017 Jan;37(1):92-94. doi: 10.3343/alm.2017.37.1.92.
2
Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.8 岁男孩 FBN1 错义突变致严重皮肤表现的肢端纤维发育不良伴硬皮病样综合征：病例报告及文献复习
Mol Genet Genomic Med. 2020 Jul;8(7):e1282. doi: 10.1002/mgg3.1282. Epub 2020 May 14.
3
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.三例与FBN1相关的肢端发育异常家族报告及软骨发育异常基因型-表型相关性文献综述
Eur J Med Genet. 2018 Apr;61(4):219-224. doi: 10.1016/j.ejmg.2017.11.018. Epub 2017 Nov 27.
4
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.三代家系中纤维连接蛋白 1 基因的新型错义突变导致的肢端发育不良。
J Pediatr Endocrinol Metab. 2022 Aug 9;35(11):1443-1447. doi: 10.1515/jpem-2022-0287. Print 2022 Nov 25.
5
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.一名患有由ADAMTSL2复合杂合突变引起的 geleophysic 发育不良的中国男孩。
Eur J Med Genet. 2017 Dec;60(12):685-689. doi: 10.1016/j.ejmg.2017.09.003. Epub 2017 Sep 14.
6
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.LTBP3基因的突变会导致肢端短小发育不全和脂肪代谢障碍性发育不全。
J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.
7
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.两名因FBN1突变（p.Ala1728Val）导致严重身材矮小且患有轻度肢端短小发育不良的患者。
Horm Res Paediatr. 2016;86(5):342-348. doi: 10.1159/000446476. Epub 2016 Jun 2.
8
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.三例伴有FBN1基因突变的日本肢端短小/脂肪代谢障碍性发育不良：临床和放射学特征比较
J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):117-121. doi: 10.1515/jpem-2016-0258.
9
Orthopedics management of acromicric dysplasia: follow up of nine patients.肢端发育不全的骨科治疗：9例患者的随访
Am J Med Genet A. 2014 Feb;164A(2):331-7. doi: 10.1002/ajmg.a.36139. Epub 2013 Dec 11.
10
Optic disc swelling in acromicric and geleophysic dysplasia.
Am J Med Genet A. 2019 Sep;179(9):1898-1901. doi: 10.1002/ajmg.a.61268. Epub 2019 Jun 22.

引用本文的文献

1
Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in and a literature review.病例报告：一个中国家庭中由错义突变导致的两种不同的肢端发育异常表型及文献综述
Front Pediatr. 2024 Jul 15;12:1428513. doi: 10.3389/fped.2024.1428513. eCollection 2024.
2
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.致病变体影响原纤维蛋白-1 蛋白的 TB5 结构域：不仅在软骨-外胚层发育不良/肢端巨大症中，也在马凡综合征中。
J Med Genet. 2024 Apr 19;61(5):469-476. doi: 10.1136/jmg-2023-109646.
3
The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.

本文引用的文献

1
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.中国儿童肢端发育异常患者中FBN1基因的三种新突变
J Hum Genet. 2014 Oct;59(10):563-7. doi: 10.1038/jhg.2014.73. Epub 2014 Aug 21.
2
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.纤维连接蛋白-1 突变导致的马方综合征、肢端矮小症和软骨-外胚层发育不良会破坏硫酸乙酰肝素的相互作用。
PLoS One. 2012;7(11):e48634. doi: 10.1371/journal.pone.0048634. Epub 2012 Nov 2.
3
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
光学基因组图谱（OGM）在 15q14q21.3 重复引起的严重矮小症中的应用。
Genes (Basel). 2023 Apr 29;14(5):1016. doi: 10.3390/genes14051016.
4
Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.一个家族中由原纤蛋白1突变引起的肢端短小发育不良：一例报告。
World J Clin Cases. 2023 Mar 26;11(9):2036-2042. doi: 10.12998/wjcc.v11.i9.2036.
5
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.ADAMTS/ADAMTSL与原纤蛋白-1在马方综合征和肢端发育异常中的协同机制
Front Genet. 2021 Nov 29;12:734718. doi: 10.3389/fgene.2021.734718. eCollection 2021.
6
Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.先天性肢端发育不良症：罕见的肌肉骨骼疾病如何揭示细胞外基质蛋白的生物学功能。
Ann N Y Acad Sci. 2021 Apr;1490(1):57-76. doi: 10.1111/nyas.14465. Epub 2020 Sep 2.
7
Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.8 岁男孩 FBN1 错义突变致严重皮肤表现的肢端纤维发育不良伴硬皮病样综合征：病例报告及文献复习
Mol Genet Genomic Med. 2020 Jul;8(7):e1282. doi: 10.1002/mgg3.1282. Epub 2020 May 14.
8
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.弹力纤维发育不良的临床病例：一个基因，不同表型。
Case Rep Endocrinol. 2018 Jul 3;2018:8212417. doi: 10.1155/2018/8212417. eCollection 2018.
FBN1 中 TGFβ 结合蛋白样结构域 5 的突变导致肢端型和软骨-骨生成发育不良。
Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.
4
Genetic and molecular aspects of acromelic dysplasia.肢端发育异常的遗传和分子方面
Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23.
5
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.脂肪代谢障碍性发育不良中的ADAMTSL2突变表明类ADAMTS蛋白在转化生长因子-β生物利用度调节中的作用。
Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.
6
Nosology and classification of genetic skeletal disorders: 2006 revision.遗传性骨骼疾病的疾病分类学与分类：2006年修订版
Am J Med Genet A. 2007 Jan 1;143A(1):1-18. doi: 10.1002/ajmg.a.31483.
7
Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children.骨骼发育异常、生长激素治疗与身体比例：与其他综合征性和非综合征性矮小儿童的比较
Horm Res. 2003;60 Suppl 3:65-70. doi: 10.1159/000074504.
8
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.Weill-Marchesani综合征的临床同质性与基因异质性
Am J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289.
9
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.常染色体显性遗传的Weill-Marchesani综合征中框内原纤蛋白-1基因缺失。
J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34.
10
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.肢端短小发育不良：长期预后及常染色体显性遗传证据
J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745.