Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease

17a-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by pathogenic mutations in CYP17A1. Female patients present with hypertension, hypokalemia, and sexual infantilism while males present with sex development disorder. Moyamoya disease (MMD) is a chronic cerebrovascular disease that frequently r...

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Detalles Bibliográficos
Autores principales: Huang, Jiaming, Zhou, Danli, Dong, Nan, Ding, Chenzhao, Liu, Yan, Li, Fangping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468450/
https://www.ncbi.nlm.nih.gov/pubmed/36110215
http://dx.doi.org/10.3389/fgene.2022.845016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468450/
https://www.ncbi.nlm.nih.gov/pubmed/36110215
http://dx.doi.org/10.3389/fgene.2022.845016

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