|本期目录/Table of Contents|

[1]刘祖娴,姜丽红,刘戈力,等.Potocki-Lupski综合征及重组人生长激素治疗随诊1例报告[J].天津医科大学学报,2023,29(03):326-328.
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Potocki-Lupski综合征及重组人生长激素治疗随诊1例报告(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
29卷
期数:
2023年03期
页码:
326-328
栏目:
病例报告
出版日期:
2023-05-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2023)03-0326-03
作者:
刘祖娴姜丽红刘戈力陈鑫王美林
(天津医科大学总医院儿科,天津 300052)
Author(s):
-
关键词:
Potocki-Lupski综合征PTPN11身材矮小重组人生长激素
Keywords:
-
分类号:
R725
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] PRATIC?魹 A D,FALSAPERLA R,RIZZO R,et al. A new patient with Potocki-Lupski syndrome:a literature review[J]. J Pediatr Genet,2018,7(1):29-34.
[2] POTOCKI L,BI W,TREADWELL-DEERING D,et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype[J]. Am J Hum Genet,2007,80(4):633-649.
[3] 中华医学会医学遗传学分会遗传病临床实践指南撰写组. Noonan综合征的临床实践指南[J]. 中华医学遗传学杂志,2020,37(3):324-328.
[4] FRANCISKOVICH R,SOLER-ALFONSO C,NEIRA-FRESNEDA J,et al. Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome:expanding the phenotype of PTLS[J]. Am J Med Genet A,2020,182(9):2077-2084.
[5] 李辉,宗心南,张亚钦.中国七岁以下儿童体重、身长/身高和头围的生长标准值及标准化生长曲线[J]. 中华儿科杂志,2009,47(3):173-178
[6] MAGOULAS P L,LIU P,GELOWANI V,et al. Inherited dup(17)(p11.2p11.2):expanding the phenotype of the Potocki-Lupski syndrome[J]. Am J Med Genet A,2014,164A(2):500-504.
[7] 王荣跃,雷婷缨,符芳,等. 染色体微阵列分析技术在489例生长发育迟缓/智力低下患儿中的应用[J]. 中华医学遗传学杂志,2017,34(4):528-533.
[8] ZHANG F,POTOCKI L,SAMPSON J B,et al. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS[J]. Am J Hum Genet,2010,86(3):462-470.
[9] CIACCIO C,PANTALEONI C,MILANI D,et al. Neurological phenotype of Potocki-Lupski syndrome[J]. Am J Med Genet A,2020,182(10):2317-2324.
[10] NEIRA-FRESNEDA J,POTOCKI L. Neurodevelopmental disorders associated with abnormal gene dosage:smith-magenis and Potocki-Lupski syndromes[J]. J Pediatr Genet,2015,4(3):159-167.
[11] CARMONA-MORA P,WALZ K. Retinoic acid induced 1,RAI1:adosage sensitive gene related to neurobehavioral alterations including autistic behavior[J]. Curr Genomics,2010,11(8):607-617.

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备注/Memo

备注/Memo:
作者简介 刘祖娴(1996-),女,硕士在读,研究方向:儿科学;通信作者:姜丽红,E-mail:jianglihong73@126.com。
更新日期/Last Update: 1900-01-01