Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes
Author:
Funder
National Natural Science Foundation of China
Science and Technology Commission of Shanghai Municipality
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-018-1879-y/fulltext.html
Reference43 articles.
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2. Andersson S, Berman DM, Jenkins EP, Russell DW (1991) Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature 354:159–161. https://doi.org/10.1038/354159a0
3. Arboleda VA, Sandberg DE, Vilain E (2014) DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol 10:603–615. https://doi.org/10.1038/nrendo.2014.130
4. Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M (2016) NR5A1 is a novel disease gene for 46, XX testicular and ovotesticular disorders of sex development. Genet Med. https://doi.org/10.1038/gim.2016.118
5. Baetens D, Güran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M, Atay Z, Bereket A, de Krijger RR, Preter Kd, Domenice S, Turan S, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E (2017) Biallelic and monoallelic ESR2 variants associated with 46, XY disorders of sex development. Genet Med. https://doi.org/10.1038/gim.2017.163
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