Phenotype and genotype characteristics of Indonesian 21-hydroxylase deficient patients

Background Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in children and 90-95% cases show 21-hydroxylase deficiency. More than 100 mutations have been described and of these, four mutations have been frequently reported in Asia. Those mutations are deletion/la...

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Bibliographic Details
Main Authors: Atiek Widya Oswari, Bambang Tridjaja, Iswari Setianingsih, Taralan Tambunan, Aman B. Pulungan, Jose R. L. Batubara
Format: Article
Language:English
Published: Indonesian Pediatric Society Publishing House 2007-10-01
Series:Paediatrica Indonesiana
Subjects:
Online Access:https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/412