A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure-Reference-Cited by-同舟云学术

A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure

Published:2009 Issue:4 Volume:56 Page:619-624
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

TAJIMA Toshihiro¹,FUJIWARA Fumie¹,FUJIEDA Kenji¹

Affiliation:

1. Department of Pediatrics, Hokkaido University School of Medicine

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/56/4/56_K08E-380/_pdf

Reference21 articles.

1. 1. Morohashi KI, Omura T (1996) Ad4BP/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function. FASEB J. 10:1569-577.

2. 3. Hasegawa T (2008) SF-1 mutations in humans. GGH. 24:1-5 (on line).

3. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation

4. Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response

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