46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference25 articles.
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3. Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids;Sadovsky;Proc. Natl. Acad. Sci. USA,1995
4. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans;Achermann;Nat. Genet.,1999
5. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner;Achermann;J. Clin. Endocrinol. Metab.,2002
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1. A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD;Journal of Pediatric Genetics;2023-03-20
2. The Use of Genetics for Reaching a Diagnosis in XY DSD;Sexual Development;2022
3. SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis;African Health Sciences;2021-09-27
4. The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development;Molecular Biology Reports;2019-07-23
5. Monogenic Forms of Male Infertility;Experientia Supplementum;2019
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