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

Pubmed ID: 
29507583
Year: 
2018
Volume: 
2018
Citation: 
Rothacker KM, Ayers KL, Tang D, Joshi K, van den Bergen JA, Robevska G, Samnakay N, Nagarajan L, Francis K, Sinclair AH, Choong CS. A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report. International journal of pediatric endocrinology 2018 : 2(2018) PubMed (Grant IDs: APP1074258, APP1062854 )