Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency, is characterized by decreased cortisol and a...

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Detalles Bibliográficos
Autores principales: Song, Sophia Q., Gropman, Andrea, Benjamin, Robert W., Mitchell, Francie, Brooks, Michaela R., Hamzik, Mary P., Sampson, Kira, Kommareddi, Ritika, Sadeghin, Teresa, Samango-Sprouse, Carole A.
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/PMC8791627/
https://www.ncbi.nlm.nih.gov/pubmed/35096019
http://dx.doi.org/10.3389/fgene.2021.808006

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