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Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.

作者信息

Bingol Banu, Tasdemir Seval, Gunenc Ziya, Abike Faruk, Esenkaya Semra, Tavukcuoglu Safak, Berkil Hakan

机构信息

Gayrettepe Florence Nightingale Hospital, Department of Obstetrics and Gynecology, Istanbul Bilim University, Istanbul, Turkey.

出版信息

J Assist Reprod Genet. 2011 Jul;28(7):615-20. doi: 10.1007/s10815-011-9568-y. Epub 2011 May 4.

DOI:10.1007/s10815-011-9568-y
PMID:21573681
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3162052/
Abstract
摘要

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Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa.非同卵双胞胎中的成人期肢端皮肤剥脱综合征：南非的一例病例报告
Am J Case Rep. 2014 Dec 31;15:589-92. doi: 10.12659/AJCR.892110.

本文引用的文献

1
PCR from single cells for preimplantation diagnosis.用于植入前诊断的单细胞聚合酶链反应
Methods Mol Med. 1996;5:245-58. doi: 10.1385/0-89603-346-5:245.
2
Preimplantation diagnosis of genetic diseases.遗传病的植入前诊断
J Postgrad Med. 2010 Oct-Dec;56(4):317-20. doi: 10.4103/0022-3859.70943.
3
ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007.欧洲人类生殖与胚胎学会（ESHRE）胚胎植入前基因诊断（PGD）联盟数据收集IX：2006年1月至12月周期及随访至2007年10月的妊娠情况
Hum Reprod. 2009 Aug;24(8):1786-810. doi: 10.1093/humrep/dep059. Epub 2009 Apr 29.
4
[Ichthyosis linearis circumflexa].[线状回旋状鱼鳞病]
Dermatologica. 1949;98(3):133-6.
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Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings.
Int J Dermatol. 2007 Mar;46(3):290-4. doi: 10.1111/j.1365-4632.2006.02956.x.
6
Netherton syndrome: a case report and review of the literature.Netherton综合征：一例病例报告及文献综述
Int J Dermatol. 2006 Jun;45(6):693-7. doi: 10.1111/j.1365-4632.2005.02637.x.
7
Preimplantation genetic diagnosis does not increase pregnancy rates in patients at risk for aneuploidy.
Fertil Steril. 2006 Jan;85(1):51-6. doi: 10.1016/j.fertnstert.2005.06.045.
8
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.LEKTI定位于板层颗粒中，与KLK5和KLK7分离，并分泌到颗粒层浅层的细胞外间隙中。
J Invest Dermatol. 2005 Feb;124(2):360-6. doi: 10.1111/j.0022-202X.2004.23583.x.
9
A unique case of trichorrhexis nodosa; bamboo hairs.结节性脆发症的一个独特病例；竹节状毛发。
AMA Arch Derm. 1958 Oct;78(4):483-7. doi: 10.1001/archderm.1958.01560100059009.
10
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome.LEKTI在人原代角质形成细胞中的蛋白水解加工、组织分布及Netherton综合征中的表达缺陷
Hum Mol Genet. 2003 Oct 1;12(19):2417-30. doi: 10.1093/hmg/ddg247. Epub 2003 Jul 29.