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Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele

21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. Phenotypically, 21-OHD can be divided into classical and non-classical (NC) forms. The genotype-phenotype correlation in 21-OHD is well established. The P30L mutation is usually associated with the NC form...

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Detalles Bibliográficos
Autores principales: Itonaga, Tomoyo, Akiba, Kazuhisa, Hasegawa, Yukihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481077/
https://www.ncbi.nlm.nih.gov/pubmed/34629741
http://dx.doi.org/10.1297/cpe.30.187