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松果体发育不全:综述与病例说明

Pineal Gland Agenesis: Review and Case Illustration.

作者信息

Cox Marcus A, Davis Michele, Voin Vlad, Shoja Mohammadali, Oskouian Rod J, Loukas Marios, Tubbs R Shane

机构信息

Medical Education, Saint Michael's Medical Center.

Department of Anatomical Sciences, St. George's University School of Medicine, Grenada, West Indies.

出版信息

Cureus. 2017 Jun 5;9(6):e1314. doi: 10.7759/cureus.1314.

DOI:10.7759/cureus.1314
PMID:28690948
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5498116/
Abstract

Agenesis of the pineal gland has rarely been reported in the medical literature. Herein, we report a cadaveric specimen found to have agenesis of the pineal gland. The remaining gross examination of the brain was normal. A review of the literature was performed on this unusual finding.

摘要

松果体发育不全在医学文献中鲜有报道。在此,我们报告一具尸体标本被发现存在松果体发育不全的情况。大脑的其余大体检查结果正常。针对这一不寻常的发现进行了文献综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97bd/5498116/f3486123256b/cureus-0009-00000001314-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97bd/5498116/f3486123256b/cureus-0009-00000001314-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97bd/5498116/f3486123256b/cureus-0009-00000001314-i01.jpg

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本文引用的文献

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Mapping gene regulatory circuitry of Pax6 during neurogenesis.绘制神经发生过程中Pax6的基因调控回路。
Cell Discov. 2016 Feb 9;2:15045. doi: 10.1038/celldisc.2015.45. eCollection 2016.
2
PAX6, brain structure and function in human adults: advanced MRI in aniridia.PAX6、人类成年人的大脑结构和功能:无虹膜症的高级 MRI。
Ann Clin Transl Neurol. 2016 Apr 12;3(5):314-30. doi: 10.1002/acn3.297. eCollection 2016 May.
3
The pineal gland from development to function.松果腺的发育与功能。
Arch Endocrinol Metab. 2018 Aug;62(4):472-479. doi: 10.20945/2359-3997000000066.
Curr Top Dev Biol. 2013;106:171-215. doi: 10.1016/B978-0-12-416021-7.00005-5.
4
A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.一种新的异常纹状体和先天性白内障综合征:与 11 号染色体连锁的证据。
Clin Genet. 2013 Sep;84(3):258-64. doi: 10.1111/cge.12066. Epub 2012 Dec 21.
5
PAX6 aniridia and interhemispheric brain anomalies.PAX6无虹膜症与大脑半球间脑异常。
Mol Vis. 2009 Oct 17;15:2074-83.
6
Cognitive functioning in humans with mutations of the PAX6 gene.携带PAX6基因突变的人类的认知功能。
Neurology. 2004 Apr 13;62(7):1216-8. doi: 10.1212/01.wnl.0000118298.81140.62.
7
Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family.人类家族中的杂合PAX6突变、成人大脑结构与额-纹状体-丘脑功能
Eur J Neurosci. 2004 Mar;19(6):1505-12. doi: 10.1111/j.1460-9568.2004.03236.x.
8
Quantitative MR image analysis in subjects with defects in the PAX6 gene.对PAX6基因存在缺陷的受试者进行的定量磁共振图像分析。
Neuroimage. 2003 Dec;20(4):2281-90. doi: 10.1016/j.neuroimage.2003.07.001.
9
Polymicrogyria and absence of pineal gland due to PAX6 mutation.PAX6 基因突变导致的多小脑回畸形和松果体缺如。
Ann Neurol. 2003 May;53(5):658-63. doi: 10.1002/ana.10576.
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Nat Genet. 2001 Jul;28(3):214-6. doi: 10.1038/90042.