46,XY disorders of sex development: the use of NGS for prevalent variants
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-022-02465-6.pdf
Reference40 articles.
1. Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket A (2014) AR and SRD5A2 gene mutations in a series of 51 Turkish 46, XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology 2:572–578. https://doi.org/10.1111/j.2047-2927.2014.00215.x
2. Ata A, Özen S, Onay H, Uzun S, Gökşen D, Özkınay F, Özbaran NB, Ulman İ, Darcan Ş (2021) A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. Eur J Med Genet 64:104154. https://doi.org/10.1016/j.ejmg.2021.104154
3. Begic N, Begic Z, Begic E (2021) Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience. Balk J Med Genet 24(1):99–102. https://doi.org/10.2478/bjmg-2021-0002
4. Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, Köhler B, Berra M, Springer A, Schweizer K, Pasterski V (2018) Caring for individuals with a difference of sex development (DSD): a consensus statement. Nat Rev Endocrinol 14:415–429. https://doi.org/10.1038/s41574-018-0010-8
5. Délot EC, Vilain E (2021) Towards improved genetic diagnosis of human differences of sex development. Nat Rev Genet 22:588–602. https://doi.org/10.1038/s41576-021-00365-5
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1. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants;Frontiers in Genetics;2024-06-10
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