Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate the clinical and molecular characteristics o...

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Detalles Bibliográficos
Autores principales: Zhou, Qiaoli, Wang, Dandan, Wang, Chunli, Zheng, Bixia, Liu, Qianqi, Zhu, Ziyang, Jia, Zhanjun, Gu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396487/
https://www.ncbi.nlm.nih.gov/pubmed/32850530
http://dx.doi.org/10.3389/fped.2020.00410

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396487/
https://www.ncbi.nlm.nih.gov/pubmed/32850530
http://dx.doi.org/10.3389/fped.2020.00410

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