Congenital lipoid adrenal hyperplasia in a Saudi infant

SUMMARY: Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexi...

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Detalles Bibliográficos
Autores principales: Subki, Siham Hussein, Wadea Mohammed Hussain, Raghad, Al-Agha, Abdulmoein Eid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513656/
https://www.ncbi.nlm.nih.gov/pubmed/36053179
http://dx.doi.org/10.1530/EDM-22-0294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513656/
https://www.ncbi.nlm.nih.gov/pubmed/36053179
http://dx.doi.org/10.1530/EDM-22-0294

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