A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlati...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Pediatr Genet
Prif Awduron: Iezzi, Maria Laura, Varriale, Gaia, Zagaroli, Luca, Lasorella, Stefania, Greco, Marco, Iapadre, Giulia, Verrotti, Alberto
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Georg Thieme Verlag KG 2021
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7853915/
https://ncbi.nlm.nih.gov/pubmed/33552641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1705110
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