Perlman syndrome: Clinical report and nine-year follow-up-Reference-Cited by-同舟云学术

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Perlman syndrome: Clinical report and nine-year follow-up

Published:2005 Issue:2 Volume:139A Page:131-135
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Piccione Maria,Cecconi Massimiliano,Giuffrè Mario,Curto Margherita Lo,Malacarne Michela,Piro Ettore,Riccio Andrea,Corsello Giovanni

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Perlman syndrome—a cause of enlarged, hyperechogenic kidneys

2. , . 2002. Overgrowth syndromes. Oxford: University Press. pp 47-50.

3. Extending the overlap of three congenital overgrowth syndromes

4. Antenatal Sonographic Features of Perlman Syndrome

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility;Cureus;2023-12-01

2. The Puzzle of Perlman: A Rare Overgrowth Syndrome;Asian Journal of Pediatric Nephrology;2023

3.

Perlman Syndrome with Deletion of DIS3L2 Gene

;Research and Reports in Neonatology;2020-10

4. Chromosomale und nicht chromosomale Syndrome;Ultraschalldiagnostik in Geburtshilfe und Gynäkologie;2018

5. Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain ofDIS3L2;American Journal of Medical Genetics Part A;2017-03-22

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