<i>MAMLD1 (CXorf6):</i> A New Gene Involved in Hypospadias

Abstract excerpt

MAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chromosome X open reading frame 6), has been shown to be a causative gene for hypospadias. This is primarily based on the identification of nonsense mutations (E124X, Q197X, and R653X), which undergo nonsense-mediated mRNA decay, in patients with penoscrotal hypospadias. Subsequent studies have shown that (1) the mouse homolog is...

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