Article
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
12 Oct 2004
Abstract excerpt
It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of DMRT1 and/or DMRT2 (the genes for doublesex and mab-3 related transcription factor 1 and 2) being the sex determining genes(s) at 9p has been raised. DMRT1 and DMRT2 map near the 9p telomere, distal of marker D9S1779. We describe here three unrelated females with distal 9p monosomy, one with XY...
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