Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
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M. Dattani | N. Sebire | J. Jameson | G. Conway | T. Homfray | I. Hughes | P. Philibert | C. Sultan | J. Achermann | B. Ferraz-de-Souza | Lin Lin | A. Albanese | S. Einaudi | D. Kelberman | V. Molini