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Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
Hum Mutat. 2018 Jan;39(1):114-123. doi: 10.1002/humu.23353. Epub 2017 Nov 8.
Hum Mutat. 2018.
PMID: 29027717
[Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system].
Gazzaneo IF, de Queiroz CM, Goes LC, Lessa VJ, de Omena Filho RL, do Nascimento DL, Petroli RJ, Zanotti SV, Monlleó IL.
Gazzaneo IF, et al.
Rev Paul Pediatr. 2016 Jan-Mar;34(1):91-8. doi: 10.1016/j.rpped.2015.06.014. Epub 2015 Oct 9.
Rev Paul Pediatr. 2016.
PMID: 26522823
Free PMC article.
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