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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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Detalles Bibliográficos
Autores principales:	Liu, Siyue, Yan, Libin, Zhou, Xinrong, Chen, Chen, Wang, Daowen, Yuan, Gang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2019
Materias:	Special Issue : Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605007/ https://www.ncbi.nlm.nih.gov/pubmed/31642359 http://dx.doi.org/10.1177/0300060519882151

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