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Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome.

作者信息

Perlman M, Goldberg G M, Bar-Ziv J, Danovitch G

出版信息

J Pediatr. 1973 Sep;83(3):414-8. doi: 10.1016/s0022-3476(73)80264-1.

DOI:10.1016/s0022-3476(73)80264-1
PMID:4353457
Abstract
摘要

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Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review.三例表现为轻型佩尔曼综合征的兄弟姐妹：病例报告及文献综述
Mol Genet Genomic Med. 2025 Jul;13(7):e70124. doi: 10.1002/mgg3.70124.
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DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.DIS3L2基因突变导致过度生长和肾母细胞瘤易感性的佩尔曼综合征。
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Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.
生长过度综合征和易患肾母细胞瘤和肝母细胞瘤儿童的监测建议。
Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710.
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Bilateral renal dysplasia, nephroblastomatosis, and bronchial stenosis. A new syndrome?双侧肾发育不良、肾母细胞瘤病和支气管狭窄。一种新综合征？
Fetal Pediatr Pathol. 2015 Jun;34(3):190-6. doi: 10.3109/15513815.2015.1014952. Epub 2015 Apr 14.
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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.DIS3L2 种系突变导致 Perlman 综合征的过度生长和 Wilms 肿瘤易感性。
Nat Genet. 2012 Feb 5;44(3):277-84. doi: 10.1038/ng.1071.
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Genetic considerations in the prenatal diagnosis of overgrowth syndromes.过度生长综合征产前诊断中的遗传学考量
Prenat Diagn. 2009 Oct;29(10):923-9. doi: 10.1002/pd.2319.
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Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.与肾母细胞瘤相关的综合征及先天性染色体异常。
J Med Genet. 2006 Sep;43(9):705-15. doi: 10.1136/jmg.2006.041723. Epub 2006 May 11.
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Sotos syndrome: a study of the diagnostic criteria and natural history.索托斯综合征：诊断标准与自然病史研究
J Med Genet. 1994 Jan;31(1):20-32. doi: 10.1136/jmg.31.1.20.
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Massive bilateral nephroblastomatosis in a 13-year-old-girl.一名13岁女孩的双侧巨大肾母细胞瘤病
Eur J Pediatr. 1982 May;138(3):231-6. doi: 10.1007/BF00441208.
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Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.维德曼-贝克威思综合征：22例新病例的临床和细胞遗传学数据展示及文献综述
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