Article
Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2008
Jochumsen U, Werner R, Miura N, Richter-Unruh A, Hiort O, Holterhus P M
Abstract excerpt
In contrast to disorders of sexual differentiation caused by lack of androgen production or inhibited androgen action, defects affecting development of the bipotent genital anlagen have rarely been investigated in humans. We have previously documented that the transcription factor FOXF2 is highly expressed in human foreskin. Moreover, Foxf2 knockout mice present with cleft palate in combination with hypoplasia of...
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