Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature.
作者信息
Makay Prince, Fasquelle Corinne, Mubungu Gerrye, Ekolo Esther, Mupuala Aimée, Fuanani Patrick, Sonet Ines, Charloteaux Benoît, Palmeira Leonor, Gatot Jean-Stéphane, Lukusa Tshilobo Prosper, Bours Vincent, Devriendt Koenraad, Lumaka Aimé
机构信息
Center for Human Genetics.
Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
出版信息
Clin Dysmorphol. 2024 Dec 10. doi: 10.1097/MCD.0000000000000510.
Abstract
摘要
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1
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature.一名刚果患者患Greig头多指（趾）连续基因综合征并伴有镰状细胞贫血，附文献复习
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3
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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.
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[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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Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.格雷格头多指（趾）综合征中的自闭症症状：一例家族病例报告。
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Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.新型GLI3变异导致重叠型Greig头多指综合征（GCPS）和帕利斯特-霍尔综合征（PHS）表型，并伴有胆囊和胰腺发育不全。
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本文引用的文献
1
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.金沙萨成年镰状细胞贫血患者的临床和实验室特征。
PLoS One. 2022 Dec 16;17(12):e0278478. doi: 10.1371/journal.pone.0278478. eCollection 2022.
2
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.
3
Co-Occurrence of Neurodevelopmental Disorders in Pediatric Sickle Cell Disease.儿童镰状细胞病中神经发育障碍的共病现象。
J Dev Behav Pediatr. 2021 Aug 1;42(6):463-471. doi: 10.1097/DBP.0000000000000914.
4
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.
5
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.
6
The Greig cephalopolysyndactyly syndrome.格雷格头多指（趾）综合征
Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10.
7
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.用于可变断点连续基因综合征特征分析的高分辨率比较基因组杂交阵列
J Med Genet. 2007 Jan;44(1):e59. doi: 10.1136/jmg.2006.042473. Epub 2006 Nov 10.
8
What you can learn from one gene: GLI3.你能从一个基因中学到什么：GLI3。
J Med Genet. 2006 Jun;43(6):465-9. doi: 10.1136/jmg.2004.029181.
9
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.
10
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family.格雷格多指（趾）并指（趾）颅面发育异常综合征：一个家族中的可变表现型
Eur J Pediatr. 1981 May;136(2):217-20. doi: 10.1007/BF00441928.
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