A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

Karen M. Rothacker, Katie L. Ayers, Dave Tang, Kiranjit Joshi, Jocelyn A. Van Den Bergen, Gorjana Robevska, Naeem Samnakay, Lakshmi Nagarajan, Kate Francis, Andrew H. Sinclair, Catherine S. Choong

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