Phenotype and genotype characteristics of Indonesian 21-hydroxylase deficient patients

• मुख्य लेखकों: Atiek Widya Oswari (लेखक), Bambang Tridjaja (लेखक), Iswari Setianingsih (लेखक), Taralan Tambunan (लेखक), Aman B. Pulungan (लेखक), Jose R. L. Batubara (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Indonesian Pediatric Society Publishing House, 2007-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...