Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity

Author:

Kouri Chrysanthi,Sommer Grit,Flück Christa E.ORCID

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Reference69 articles.

1. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2(3):148–62.

2. Biason-Lauber A. Control of sex development. Best Pract Res Clin Endocrinol Metab. 2010;24(2):163–86.

3. Camats N, Flück CE, Audí L. Oligogenic origin of differences of sex development in humans. Int J Mol Sci. 2020;21(5):1809.

4. Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2014;16(2):176–82.

5. Fabbri-Scallet H, de Sousa LM, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP. Mutation update for the NR5A1 gene involved in DSD and infertility. Hum Mutat. 2020;41(1):58–68.

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