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
International Journal of Pediatric Endocrinology | BMC | Published : 2018
Awarded by National Health and Medical Research Council (NHMRC) program grant
Awarded by NHMRC research fellowship
KLA, JAvdB, GR and AHS are funded by a National Health and Medical Research Council (NHMRC) program grant (APP1074258). AHS is supported by an NHMRC research fellowship (APP1062854).