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Combined pituitary hormone deficiency with a novel GLI2 frameshift variant.

作者信息

Matsuo Yudai, Adachi Natsuho, Mukai Takeo, Kato Shota, Kato Motohiro, Tanaka Hiroyuki

机构信息

Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.

出版信息

Pediatr Int. 2025 Jan-Dec;67(1):e70082. doi: 10.1111/ped.70082.

DOI:10.1111/ped.70082
PMID:40457737
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12130743/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a764/12130743/c3da5a4db0fd/PED-67-e70082-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a764/12130743/c3da5a4db0fd/PED-67-e70082-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a764/12130743/c3da5a4db0fd/PED-67-e70082-g001.jpg

相似文献

1
Combined pituitary hormone deficiency with a novel GLI2 frameshift variant.合并新型GLI2移码变异的垂体激素联合缺乏症。
Pediatr Int. 2025 Jan-Dec;67(1):e70082. doi: 10.1111/ped.70082.
2
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.在无脑畸形患者中，新型杂合性无义 GLI2 突变与垂体后叶异位而无全前脑。
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Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.患者存在垂体激素缺乏症和轴后多指畸形，存在 GLI2 近乎完全缺失。
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本文引用的文献

1
Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.全外显子组测序提示先天性联合垂体激素缺乏症发病中的多基因协同作用。
Cells. 2022 Jun 30;11(13):2088. doi: 10.3390/cells11132088.
2
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.GLI2 的截断和锌指变异与垂体功能减退有关。
Am J Med Genet A. 2022 Apr;188(4):1065-1074. doi: 10.1002/ajmg.a.62611. Epub 2021 Dec 17.
3
A case series of a mother and two daughters with a gene deletion demonstrating variable expressivity and incomplete penetrance.
一个母亲和两个女儿的病例系列，她们存在基因缺失，表现出可变表达和不完全外显率。
Clin Case Rep. 2020 Aug 30;8(11):2138-2144. doi: 10.1002/ccr3.3085. eCollection 2020 Nov.
4
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.在无脑回畸形的先天性垂体功能减退症患者中，GLI2 非同义变异体的相对高发率。
Clin Endocrinol (Oxf). 2013 Apr;78(4):551-7. doi: 10.1111/cen.12044.
5
Sonography of adrenal glands in neonates and children: changes in appearance with age.新生儿及儿童肾上腺的超声检查：外观随年龄的变化
J Clin Ultrasound. 1986 Jan;14(1):43-7. doi: 10.1002/jcu.1870140109.