Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

In this study, we described a male who presented with delayed-onset adrenal hypoplasia congenita (AHC) and mild hypogonadotropic hypogonadism (HHG) without a relevant family history. A novel mutation in the DAX1 (dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X c...

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Vydáno v:J Int Med Res
Hlavní autoři: Liu, Siyue, Yan, Libin, Zhou, Xinrong, Chen, Chen, Wang, Daowen, Yuan, Gang
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2019
Témata:
Special Issue : Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7605007/
https://ncbi.nlm.nih.gov/pubmed/31642359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060519882151
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