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Williams syndrome.

作者信息

Burn J

出版信息

J Med Genet. 1986 Oct;23(5):389-95. doi: 10.1136/jmg.23.5.389.

DOI:10.1136/jmg.23.5.389
PMID:3537294
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049773/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/b04439bc2ee4/jmedgene00091-0009-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/be75ad180d44/jmedgene00091-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/37c78b2a9ced/jmedgene00091-0006-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/8297e3bd392a/jmedgene00091-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/b7ed36281bb5/jmedgene00091-0007-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/2b8cd0771d9f/jmedgene00091-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/db5f6e1a3ef2/jmedgene00091-0008-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/4ad53aee7bda/jmedgene00091-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/b04439bc2ee4/jmedgene00091-0009-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/be75ad180d44/jmedgene00091-0006-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/37c78b2a9ced/jmedgene00091-0006-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/8297e3bd392a/jmedgene00091-0007-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/b7ed36281bb5/jmedgene00091-0007-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/2b8cd0771d9f/jmedgene00091-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/db5f6e1a3ef2/jmedgene00091-0008-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/4ad53aee7bda/jmedgene00091-0009-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/228f/1049773/b04439bc2ee4/jmedgene00091-0009-b.jpg

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本文引用的文献

1
FAMILIAL SUPRAVALVULAR AORTIC STENOSIS.家族性主动脉瓣上狭窄
Am J Dis Child. 1964 Oct;108:341-7. doi: 10.1001/archpedi.1964.02090010343002.
2
IDIOPATHIC HYPERCALCEMIA AND SUPRAVALVULAR AORTIC STENOSIS. DOCUMENTATION OF A NEW SYNDROME.特发性高钙血症与主动脉瓣上狭窄。一种新综合征的记录。
N Engl J Med. 1964 Jul 16;271:117-20. doi: 10.1056/NEJM196407162710302.
3
INFANTILE HYPERCALCAEMIA, NUTRITIONAL RICKETS, AND INFANTILE SCURVY IN GREAT BRITAIN. A BRITISH PAEDIATRIC ASSOCIATION REPORT.英国的婴儿高钙血症、营养性佝偻病和婴儿坏血病。一份英国儿科学会报告。
威廉姆斯综合征患者横结肠扭转的罕见表现：病例报告及文献综述
Ann Med Surg (Lond). 2022 Jul 31;80:104310. doi: 10.1016/j.amsu.2022.104310. eCollection 2022 Aug.
4
The contribution of GTF2I haploinsufficiency to Williams syndrome.GTF2I 杂合不足对威廉姆斯综合征的贡献。
Mol Cell Probes. 2018 Aug;40:45-51. doi: 10.1016/j.mcp.2017.12.005. Epub 2018 Jan 3.
5
Williams Syndrome and 15q Duplication: Coincidence versus Association.威廉姆斯综合征与15q重复：巧合与关联
Mol Syndromol. 2017 Jan;8(1):50-54. doi: 10.1159/000452360. Epub 2016 Nov 15.
6
Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.通过染色体微阵列分析检测威廉姆斯-贝伦综合征患者7号染色体q11.23区域不同的微缺失大小和断点
Mol Syndromol. 2016 Feb;6(6):268-75. doi: 10.1159/000443942. Epub 2016 Feb 2.
7
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.威廉姆斯-贝伦综合征：55例巴西患者的临床研究及多重连接探针扩增技术在诊断中的应用
Biomed Res Int. 2015;2015:903175. doi: 10.1155/2015/903175. Epub 2015 May 18.
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Loss of WSTF results in spontaneous fluctuations of heterochromatin formation and resolution, combined with substantial changes to gene expression.WSTF 的缺失会导致异染色质形成和分解的自发波动，并伴随着基因表达的显著变化。
BMC Genomics. 2013 Oct 29;14:740. doi: 10.1186/1471-2164-14-740.
9
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.应用多态性标记检测 Williams-Beuren 综合征 7q11.23 缺失。
Clinics (Sao Paulo). 2011;66(6):959-64. doi: 10.1590/s1807-59322011000600007.
10
Mutational mechanisms of Williams-Beuren syndrome deletions.威廉姆斯-贝伦综合征缺失的突变机制。
Am J Hum Genet. 2003 Jul;73(1):131-51. doi: 10.1086/376565. Epub 2003 Jun 9.
Br Med J. 1964 Jun 27;1(5399):1659-61. doi: 10.1136/bmj.1.5399.1659.
4
ASSOCIATION BETWEEN AORTIC STENOSIS AND FACIES OF SEVERE INFANTILE HYPERCALCAEMIA.主动脉瓣狭窄与重度婴儿高钙血症面容之间的关联。
Lancet. 1963 Oct 12;2(7311):745-9. doi: 10.1016/s0140-6736(63)90553-1.
5
CHROMOSOME STUDIES IN PATIENTS WITH SUPRAVALVULAR AORTIC STENOSIS.主动脉瓣上狭窄患者的染色体研究
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6
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Severe infantile hypercalcaemia with special reference to the facies.重度婴儿高钙血症，特别提及面容表现。
Arch Dis Child. 1958 Oct;33(171):385-95. doi: 10.1136/adc.33.171.385.