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Amedeo Smart

Independent Medical Education


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Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, et al. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS One 2023;18:e0287515.
PMID: 37432935


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