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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 期刊论文
发表期刊: INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY. 出版年: 2018
作者:  Rothacker, Karen M.;  Ayers, Katie L.;  Tang, Dave;  Joshi, Kiranjit;  van den Bergen, Jocelyn A.;  Robevska, Gorjana;  Samnakay, Naeem;  Nagarajan, Lakshmi;  Francis, Kate;  Sinclair, Andrew H.;  Choong, Catherine S.
收藏  |  浏览/下载:6/0  |  提交时间:2021/01/08
Disorder of sex development  Desert hedgehog  DHH  Gonadal dysgenesis  Massively parallel sequencing