E. M. Costa

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

H. Ostrer, Robert Huether, A. Chamberlin, 2019, Human molecular genetics.

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development

B. Mendonca, M. Inácio, I. Arnhold, 2018, The Journal of clinical endocrinology and metabolism.

DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

E. Vilain, C. Keegan, H. Barseghyan, 2018, bioRxiv.

Effects of endocrine disruptors in the development of the female reproductive tract.

P. Spritzer, A. Hohl, T. Bachega, 2014, Arquivos brasileiros de endocrinologia e metabologia.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

J. Achermann, B. Ferraz-de-Souza, Lin Lin, 2016, Birth defects research. Part C, Embryo today : reviews.

46,XY disorders of sex development (DSD)

B. Mendonca, I. Arnhold, S. Domenice, 2009, Clinical endocrinology.

46,XY DSD due to impaired androgen production.

A. Belgorosky, M. Rivarola, B. Mendonca, 2010, Best practice & research. Clinical endocrinology & metabolism.