Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome-Reference-Cited by-同舟云学术

Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome

Published:2021-10 Issue:10 Volume:6 Page:2585-2593
ISSN:2468-0249
Container-title:Kidney International Reports
language:en
Short-container-title:Kidney International Reports

Author:

Tsuji Yurika,Yamamura Tomohiko,Nagano China,Horinouchi Tomoko,Sakakibara Nana,Ishiko Shinya,Aoto Yuya,Rossanti Rini,Okada Eri,Tanaka Eriko,Tsugawa Koji,Okamoto Takayuki,Sawai Toshihiro,Araki Yoshinori,Shima Yuko,Nakanishi Koichi,Nagase Hiroaki,Matsuo Masafumi,Iijima Kazumoto,Nozu Kandai

Funder

Ministry of Education, Culture, Sports, Science and Technology

Publisher

Elsevier BV

Subject

Nephrology

Reference62 articles.

1. Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome;Miyoshi;Endocr J,2006

2. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?;Kikuchi;J Med Genet,1998

3. Donor splice-site mutations in WT1 are responsible for Frasier syndrome;Barbaux;Nat Genet,1997

4. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms;Klamt;Hum Mol Genet,1998

5. Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome;Schumacher;Mol Reprod Dev,2008

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