Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern].
出版信息
Appl Clin Genet. 2021 Mar 5;14:87. doi: 10.2147/TACG.S307411. eCollection 2021.
Abstract
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相似文献
1
Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern].一名因父源平衡插入（5；7）导致7p13 - 14区域14 Mb缺失的男孩患有的Greig头多指（趾）畸形（GCPS）相邻基因综合征[关注表达]
Appl Clin Genet. 2021 Mar 5;14:87. doi: 10.2147/TACG.S307411. eCollection 2021.
2
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).一名患有Greig头多指（趾）综合征（GCPS）的男孩，其7号染色体短臂13-14区域存在14 Mb的缺失，该缺失由父亲的平衡插入（5；7）所致。
Appl Clin Genet. 2008 Nov 18;1:19-22. doi: 10.2147/tacg.s4401. Print 2008.
3
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.格雷格头面多肢体综合征（GCPS）中 2 型 MODY 作为连续基因缺失综合征的一部分。
Am J Med Genet A. 2011 Oct;155A(10):2469-72. doi: 10.1002/ajmg.a.33829.
4
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.Greig头多指（趾）畸形连续基因缺失综合征的临床与分子特征及其与胼胝体发育不全综合征的鉴别
Am J Med Genet A. 2003 Dec 15;123A(3):236-42. doi: 10.1002/ajmg.a.20318.
5
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.格雷格头面多肢体并指综合征：病例报告及文献复习。
Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674.
6
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.人类一个发育基因的染色体定位：直接DNA分析表明，Greig头多指（趾）畸形基因定位于7p13。
Am J Med Genet. 1988 Dec;31(4):799-804. doi: 10.1002/ajmg.1320310412.
7
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.GLI3锌指基因在Greig综合征家族中因易位而中断。
Nature. 1991 Aug 8;352(6335):539-40. doi: 10.1038/352539a0.
8
Phenotype of five patients with Greig syndrome and microdeletion of 7p13.五例患有Greig综合征且7p13区域存在微缺失的患者的表型。
Am J Med Genet. 2001 Aug 15;102(3):243-9. doi: 10.1002/ajmg.1443.
9
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.与7号染色体短臂间质缺失相关的Greig综合征：Greig综合征定位于7p13的确认。
Hum Genet. 1991 Aug;87(4):452-6. doi: 10.1007/BF00197167.
10
[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].[7p14.1微缺失与Greig头多指（趾）综合征]
An Pediatr (Barc). 2011 Apr;74(4):266-9. doi: 10.1016/j.anpedi.2010.11.017. Epub 2011 Feb 5.
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