|
|
|
| RABL2B gene mutation in a girl with mental retardation and hyperactivity |
| ZHU Li-Na, LIU Xin, WANG Chun-Zhi, WANG Yan, YANG Xiao, PENG Wei, WANG Wei, MA Ning. |
| Department of Clinical Genetics, Bayi Children's Hospital, General Hospital Of Beijing Commamd, Beijing 100700, China |
|
| Cite this article: |
|
ZHU Li-Na,LIU Xin,WANG Chun-Zhi et al. RABL2B gene mutation in a girl with mental retardation and hyperactivity[J]. 中国当代儿科杂志, 2009, 11(9): 780-781.
|
|
|
|
|
ZHU Li-Na,LIU Xin,WANG Chun-Zhi et al. RABL2B gene mutation in a girl with mental retardation and hyperactivity[J]. CJCP, 2009, 11(9): 780-781.
|
| URL: |
| http://www.zgddek.com/EN/ OR http://www.zgddek.com/EN/Y2009/V11/I9/780 |
| ［1］Wong AC, Shkolny D, Dorman A, Willingham D, Roe BA, McDermid HE. Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13［J］. Genomics, 1999, 59(3): 326-334.
|
| ［2］Anderlid BM, Schoumans J, Annerén G, Tapia-paezi, Dumanski J, Blennow E, et al. FISH-mapping of a 100-kb terminal 22q13 deletion ［J］. Hum Genet , 2002, 110(5): 439-443.
|
| ［3］Flint J, Wilike AO, Buckle VJ, Winter, RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation ［J］. Nat Genet, 1995, 9(2): 132-140.
|
| ［4］Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, et al. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations［J］. J Med Genet, 2003, 40(9): 690-696.
|
| ［5］Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Diqilio MC, et al. High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism［J］. Clin Genet, 2004, 66(1):30-38.
|
| [1] |
MA Yan-Yan, SONG Jin-Qing, WU Tong-Fei, LIU Yu-Peng, XIAO Jiang-Xi, JIANG Yu-Wu, YANG Yan-Ling. Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria[J]. 中国当代儿科杂志, 2011, 13(5): 392-395. |
| [2] |
CHEN Yin-Bo, HAO Yun-Peng, LIANG Dong. Hypomelanosis of Ito and brain abscess in a boy[J]. 中国当代儿科杂志, 2011, 13(5): 440-441. |
| [3] |
ZHU Xue-Ming, JIN Mei-Fang, WANG Xin-Dong, LI Ying, LI Xiao-Zhong. Familial hemophagocytic lymphohistiocytosis complicated by thymic dysplasia: a case report[J]. 中国当代儿科杂志, 2009, 11(12): 939-940. |
| [4] |
ZHU Li-Na, LIU Xin, WANG Chun-Zhi, WANG Yan, YANG Xiao, PENG Wei, WANG Wei, MA Ning. RABL2B gene mutation in a girl with mental retardation and hyperactivity[J]. 中国当代儿科杂志, 2009, 11(9): 780-781. |
| [5] |
ZHANG Lei, XU Xiao-Heng, ZHANG Si-Jin. Research advance in the treatment of phenylketonuria[J]. 中国当代儿科杂志, 2009, 11(9): 786-789. |
| [6] |
JIANG Feng-Zhi, CUI Qi-Liang, JIANG Jian-Hui. A case report of maple syrup urine disease[J]. 中国当代儿科杂志, 2009, 11(07): 599-600. |
| [7] |
WEI Xiao-Qiong, KONG Qing-Peng, ZHANG Yao, YANG Yan-Ling, CHANG Xing-Zhi, QI Yu, QI Zhao-Yue, XIAO Jiang-Xi, QIN Jiong, WU Xi-Ru. A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation[J]. 中国当代儿科杂志, 2009, 11(05): 333-336. |
| [8] |
CHEN Wei, LIAO Jian-Xiang, CHEN Li. Rett syndrome in a child treated with adrenocorticotrophic hormone[J]. 中国当代儿科杂志, 2009, 11(03): 235-236. |
| [9] |
ZHANG Li-Xia, GAO Ping-Ming. A case report of carnitine palmitoyltransferase II deficiency[J]. 中国当代儿科杂志, 2009, 11(02): 162-162. |
| [10] |
LI Ji, QIU Zheng-Qing, WEI Min. Caroli's syndrome[J]. 中国当代儿科杂志, 2009, 11(01): 10-14. |
| [11] |
BAI Fan, REN Li-Hong, ZHANG Hai-Tao, AN Hui-Ping, HUANG Su-Fang, HU Meng-Ying. Neurofibromatosis type 1: a report of 4 cases in a family constellation[J]. 中国当代儿科杂志, 2006, 8(5): 437-438. |
|
|
|
|
