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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

PURPOSE: The purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype. METHODS: This was a retrospective study of the patients with congenital adrenal hyperplasia...

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Detalles Bibliográficos
Autores principales: Yoo, Yangho, Chang, Mi Sun, Lee, Jieun, Cho, Sung Yoon, Park, Sung Won, Jin, Dong-Kyu, Park, Hyung-Doo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027076/
https://www.ncbi.nlm.nih.gov/pubmed/24904866
http://dx.doi.org/10.6065/apem.2013.18.3.128