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The Molecular Basis of Sex Determination and Differentiation: Implications for Understanding DSD.
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Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.
Journal of Medical Genetics
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Major, AT, Ayers, K, Chue, J, Roeszler, K, Smith, C.
FOXL2 antagonises the male developmental pathway in embryonic chicken gonads.
Journal of Endocrinology
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Ayers, K, van den Bergen, J, Robevska, G, Listyasari, N, Raza, J, Atta, I, Riedl, S, Rothacker, K, Choong, C, Faradz, SMH, et al.
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
Journal of Medical Genetics
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NR5A1 gene variants repress the ovarianāspecific WNT signaling pathway in 46,XX disorders of sex development patients.
Human Mutation
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