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A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.

作者信息

Goto Masahide, Kagami Masayo, Nishimura Gen, Yamagata Takanori

机构信息

Department of Pediatrics, Kitaibaraki Municipal General Hospital, Kitaibaraki, Japan.

Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.

出版信息

Am J Med Genet A. 2016 Sep;170(9):2483-5. doi: 10.1002/ajmg.a.37827. Epub 2016 Jun 30.

DOI:10.1002/ajmg.a.37827
PMID:27362607
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5095869/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4ab/5095869/5b5872e57c55/AJMG-170-2483-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4ab/5095869/5b5872e57c55/AJMG-170-2483-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b4ab/5095869/5b5872e57c55/AJMG-170-2483-g001.jpg

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本文引用的文献

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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.一项验证临床评分系统并证明Silver-Russell综合征表型-基因型相关性的前瞻性研究。
J Med Genet. 2015 Jul;52(7):446-53. doi: 10.1136/jmedgenet-2014-102979. Epub 2015 May 7.
2
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.两名具有Silver-Russell综合征兼容表型的患者14q32.2印记区域的IG-DMR和MEG3-DMR的表型突变
Eur J Hum Genet. 2015 Aug;23(8):1062-7. doi: 10.1038/ejhg.2014.234. Epub 2014 Nov 5.
3
J Clin Res Pediatr Endocrinol. 2024 Dec 4;16(4):475-480. doi: 10.4274/jcrpe.galenos.2022.2022-9-19. Epub 2023 Feb 2.
4
Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.坦普尔综合征：15例患者的临床发现、身体成分与认知情况
J Clin Med. 2022 Oct 25;11(21):6289. doi: 10.3390/jcm11216289.
5
Novel Variant in in a Familial Case with Silver-Russell Syndrome Suspicion.在一个疑似 Silver-Russell 综合征的家族病例中发现 基因的新型变异。
Genes (Basel). 2020 Dec 5;11(12):1461. doi: 10.3390/genes11121461.
A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome.
对第一组患有Silver-Russell综合征的波兰儿童进行的十年身体发育观察。
Neuro Endocrinol Lett. 2014;35(4):306-13.
4
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.坦普尔综合征：提高对一种诊断不足的14号染色体印记障碍的认识：对51例已发表病例的分析
J Med Genet. 2014 Aug;51(8):495-501. doi: 10.1136/jmedgenet-2014-102396. Epub 2014 Jun 2.
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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.靶向甲基化检测患者队列拓宽了印迹疾病的表观遗传和临床描述。
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Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms.胎儿及儿童生长发育障碍中的人类印记异常：临床意义与分子机制
Curr Pharm Des. 2014;20(11):1751-63. doi: 10.2174/13816128113199990525.
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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.138 例日本 Silver-Russell 综合征患者的分子和临床研究。
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Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.
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