Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
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Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-023-01522-6.pdf
Reference14 articles.
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2. Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, et al. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. Birth Defects Res C Embryo Today. 2016;108:309–20.
3. Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab. 2007;92:3305–13.
4. Barbaro M, Cicognani A, Balsamo A, Löfgren A, Baldazzi L, Wedell A, et al. 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. Clin Genet. 2008;73:453–64.
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