Clinical utility gene card for: Gorlin syndrome.
作者信息
Lo Muzio Lorenzo, Pastorino Lorenza, Levanat Sonja, Musani Vesna, Situm Mima, Scarra Giovanna Bianchi
机构信息
Department of Surgical Sciences, University of Foggia, Foggia, Italy.
出版信息
Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.9. Epub 2011 Feb 9.
Abstract
摘要
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Am J Med Genet A. 2009 Jul;149A(7):1539-43. doi: 10.1002/ajmg.a.32944.
2
Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.通过定量多重荧光PCR检测到9q22.32-q22.33存在大片段缺失的戈林综合征患者。
Dermatology. 2009;219(2):111-8. doi: 10.1159/000219247. Epub 2009 May 14.
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A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.一个中国家系中，PTCH2基因的错义突变是显性遗传的痣样基底细胞癌综合征的病因。
J Med Genet. 2008 May;45(5):303-8. doi: 10.1136/jmg.2007.055343. Epub 2008 Feb 19.
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A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.一名通过全基因组阵列比较基因组杂交技术鉴定出9号染色体长臂22.1区至22.32区缺失，包含PTCH和ROR2基因的女孩。
Am J Med Genet A. 2007 Aug 15;143A(16):1885-9. doi: 10.1002/ajmg.a.31845.
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[Clinical and genetic study in 22 patients with basal cell nevus syndrome].22例基底细胞痣综合征患者的临床与遗传学研究
Ann Dermatol Venereol. 2006 Feb;133(2):117-23. doi: 10.1016/s0151-9638(06)70861-4.
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Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.意大利痣样基底细胞癌综合征患者的分子特征
Hum Mutat. 2005 Mar;25(3):322-3. doi: 10.1002/humu.9317.
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Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.82例痣样基底细胞癌（NBCC或Gorlin）综合征患者的放射学特征。
Genet Med. 2004 Nov-Dec;6(6):495-502. doi: 10.1097/01.gim.0000145045.17711.1c.
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Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals.痣样基底细胞癌综合征：对33名韩国患者的回顾性分析
Int J Oral Maxillofac Surg. 2004 Jul;33(5):458-62. doi: 10.1016/j.ijom.2003.11.001.
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Early diagnosis of nevoid basal cell carcinoma syndrome.痣样基底细胞癌综合征的早期诊断
J Am Dent Assoc. 1999 May;130(5):669-74. doi: 10.14219/jada.archive.1999.0276.
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Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals.痣样基底细胞癌综合征。37名意大利患者的临床发现。
Clin Genet. 1999 Jan;55(1):34-40. doi: 10.1034/j.1399-0004.1999.550106.x.
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