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
10.1186/s13633-018-0056-3
Int J Pediatr Endocrinol
2018;2018:2.
dhh desert hedgehog disorder of sex development gonadal dysgenesis massively parallel sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/29507583/
Case Reports
PMC5834851
29507583
A novel, homozygous mutation in desert hedgehog ( DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
2018