Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.
作者信息
Finucane Brenda, Savatt Juliann M, Shimelis Hermela, Girirajan Santhosh, Myers Scott M
机构信息
Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania, USA.
Department of Biochemistry and Molecular Biology, and Department of Anthropology, Pennsylvania State University, State College, Pennsylvania, USA.
出版信息
Am J Med Genet A. 2021 Jun;185(6):1922-1924. doi: 10.1002/ajmg.a.62159. Epub 2021 Mar 5.
Abstract
摘要
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Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.史密斯-马吉尼斯综合征中的伯-霍-杜三氏症状包括小儿期气胸。
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引用本文的文献
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Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.在医疗体系人群中，截断型 FLCN 变异体和 Birt-Hogg-Dubé 相关表型的出现频率。
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Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.导致史密斯-马吉尼斯综合征的RAI1基因致病变异可能存在报告不足的情况。
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本文引用的文献
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ClinVar: improving access to variant interpretations and supporting evidence.ClinVar：改善变异解读和支持证据的获取。
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153.
2
Birt-Hogg-Dubé syndrome: a case report and a review of the literature.Birt-Hogg-Dubé综合征：一例病例报告及文献综述
Eur Clin Respir J. 2017 Feb 20;4(1):1292378. doi: 10.1080/20018525.2017.1292378. eCollection 2017.
3
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.一名患有史密斯-马吉尼斯综合征的成年男性的双侧肾肿瘤：卵泡抑素相关蛋白（FLCN）基因的作用
Eur J Med Genet. 2016 Oct;59(10):499-501. doi: 10.1016/j.ejmg.2016.09.005. Epub 2016 Sep 12.
4
Birt-Hogg-Dubé Syndrome.Birt-Hogg-Dubé 综合征。
Clin Chest Med. 2016 Sep;37(3):475-86. doi: 10.1016/j.ccm.2016.04.010. Epub 2016 Jun 25.
5
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.Birt-Hogg-Dubé综合征的分子遗传学与临床特征
Nat Rev Urol. 2015 Oct;12(10):558-69. doi: 10.1038/nrurol.2015.206. Epub 2015 Sep 1.
6
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.史密斯-马根尼斯综合征：RAI1 基因杂合缺失导致神经和代谢途径中基因调控改变。
Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827.
7
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.Smith-Magenis 综合征中发现移码突变热点：病例报告及文献复习。
BMC Med Genet. 2010 Oct 8;11:142. doi: 10.1186/1471-2350-11-142.
8
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.史密斯-马吉尼斯综合征的性别、基因型和表型差异：105例病例的荟萃分析
Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x.
9
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.89个Birt-Hogg-Dubé综合征家庭中的肺囊肿、自发性气胸及基因关联
Am J Respir Crit Care Med. 2007 May 15;175(10):1044-53. doi: 10.1164/rccm.200610-1483OC. Epub 2007 Feb 22.
10
Spontaneous pneumothorax.自发性气胸
N Engl J Med. 2000 Mar 23;342(12):868-74. doi: 10.1056/NEJM200003233421207.
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