MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.
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T. Ogata | B. Mendonca | S. Domenice | M. Fukami | E. Costa | Maíra Pontual Brandão | Mariza Gerdulo | Natalia P. Pereira