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

Journal article

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

DOI: 10.1186/s13633-018-0056-3

University of Melbourne Researchers

Katie Ayers Author Paediatrics Royal Children's Hospital

Andrew Sinclair Author Paediatrics Royal Children's Hospital

Grants

Awarded by National Health and Medical Research Council (NHMRC) program grant

Awarded by NHMRC research fellowship

Funding Acknowledgements

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).