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