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Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

BACKGROUND: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization. METHODS: The clinical, biochemical, genetic, therapeutic, and follow-up data of...

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Detalles Bibliográficos
Autores principales: Zheng, Wanqi, Duan, Ying, Xia, Yu, Liang, Lili, Gong, Zhuwen, Wang, Ruifang, Lu, Deyun, Zhang, Kaichuang, Yang, Yi, Sun, Yuning, Zhang, Huiwen, Han, Lianshu, Gong, Zizhen, Xiao, Bing, Qiu, Wenjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214642/
https://www.ncbi.nlm.nih.gov/pubmed/37237297
http://dx.doi.org/10.1186/s13023-023-02737-y