A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone
Author:
Funder
the Research Fund of Anhui Medical University
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s42000-023-00513-y.pdf
Reference20 articles.
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2. Ibba A, Del Pistoia M, Balsamo A, Baronio F, Capalbo D, Russo G et al (2021) Differences of sex development in the newborn: from clinical scenario to molecular diagnosis. Minerva Pediatr (Torino) 73(6):606–620. https://doi.org/10.23736/S2724-5276.21.06512-5
3. Pasterski V, Prentice P, Hughes IA (2010) Impact of the consensus statement and the new DSD classification system. Best Pract Res Clin Endocrinol Metab 24(2):187–195. https://doi.org/10.1016/j.beem.2009.11.004
4. Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT (2007) Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Pract Res Clin Endocrinol Metab 21(3):351–365. https://doi.org/10.1016/j.beem.2007.06.003
5. Fabbri-Scallet H, de Sousa LM, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP (2020) Mutation update for the NR5A1 gene involved in DSD and infertility. Hum Mutat 41(1):58–68. https://doi.org/10.1002/humu.23916
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