Endocrinology

• ACTH-independent adrenal macronodular hyperplasia, type 2 (ARMC5) + info
   
• Acyl-CoA dehydrogenase, medium chain deficiency (c.985A>G mutation on ACADM gene) + info
   
• Acyl-CoA medium-chain dehydrogenase deficiency (sequence analysis of ACADM gene) + info
   
• Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis on CYP21A2 gene) + info
   
• Alstrom syndrome (deletion/duplication analysis of ALMS1 gene) + info
   
• Alstrom syndrome (sequence analysis of ALMS1 gene) + info
   
• Alstrom syndrome (sequence analysis of exons 8, 10 and 16 of ALMS1 gene) + info
   
• Androgen insensitivity syndrome (deletion/duplication analysis on AR gene) + info
   
• Androgen insensitivity syndrome (sequence analysis of AR gene) + info
   
• ANE syndrome (sequence analysis of RBM28 gene) + info
   
• Anhidrotic ectodermal dysplasia (sequence analysis of EDAR gene) + info
   
• Apolipoprotein C-II deficiency (sequence analysis of APOC2 gene) + info
   
• Arginase deficiency (sequence analysis of ARG1 gene) + info
   
• Aromatase deficiency (sequence analysis of CYP19A1 gene) + info
   
• Autoimmune polyendocrinopathy syndrome (sequence analysis of AIRE gene) + info
   
• Autoimmune polyglandular syndrome (deletion/duplication analysis of AIRE gene) + info