Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.

Baetens D, Guran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E
Genet Med. 2017 Oct 26. pii: gim2017163. doi: 10.1038/gim.2017.163. PubMed Article

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