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A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.

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Description scientific article published on 18 June 2013
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author: Ola M. Ali  Mona L. Essawi  Heba Amin Hassan  Inas Mazen  Yehia Z Gad 

Publication date June 18, 2013
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