Lack of Puberty Despite Elevated Estradiol in a 46,XY Phenotypic Female with Frasier Syndrome-Reference-Cited by-同舟云学术

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Lack of Puberty Despite Elevated Estradiol in a 46,XY Phenotypic Female with Frasier Syndrome

Published:2006 Issue:3 Volume:53 Page:371-376
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

MIYOSHI Yoko¹,SANTO Yoko¹,TACHIKAWA Kanako²,NAMBA Noriyuki¹³,HIRAI Haruhiko¹,MUSHIAKE Sotaro¹,NAKAJIMA Shigeo¹,MICHIGAMI Toshimi²,OZONO Keiichi¹

Affiliation:

1. Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine

2. Department of Environmental Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health

3. First Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/53/3/53_3_371/_pdf

Reference16 articles.

1. WT1 proteins: functions in growth and differentiation

2. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

3. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

4. Donor splice-site mutations in WT1 are responsible for Frasier syndrome

5. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms

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1. Benchmarking splice variant prediction algorithms using massively parallel splicing assays;Genome Biology;2023-12-21

2. High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome;Kidney International Reports;2023-10

3. Benchmarking splice variant prediction algorithms using massively parallel splicing assays;2023-05-07

4. High-throughput splicing assays identify known and novelWT1exon 9 variants in nephrotic syndrome;2023-03-20

5. Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome;Kidney International Reports;2021-10

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