Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis-Reference-Cited by-同舟云学术

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

Published:2008-04-02 Issue:5 Volume:73 Page:453-464
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Barbaro M,Cicognani A,Balsamo A,Löfgren Å,Baldazzi L,Wedell A,Oscarson M

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.00980.x/fullpdf

Reference33 articles.

1. Sex determination and differentiation;MacLaughlin;N Engl J Med,2004

2. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans;Achermann;Nat Genet,1999

3. A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency;Correa;J Clin Endocrinol Metab,2004

4. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function;Lin;J Clin Endocrinol Metab,2007

5. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency;Kohler;Hum Mutat,2007

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