Obstetrics / Gynecology /PND

• Achondroplasia (sequence analysis of exon 9 of FGFR3 gene) + info
   
• Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis on CYP21A2 gene) + info
   
• Alpha-fetoprotein deficiency (sequence analysis of AFP) + info
   
• Androgen insensitivity syndrome (deletion/duplication analysis on AR gene) + info
   
• Androgen insensitivity syndrome (sequence analysis of AR gene) + info
   
• Angelman syndrome (deletion/duplication analysis on UBE3A gene) + info
   
• Angelman syndrome (sequence analysis of UBE3A gene) + info
   
• Antithrombin III deficiency (sequence analysis of SERPINC1 gene) + info
   
• Autosomal recessive hypophosphatemic rickets (sequence analysis of DMP1 gene) + info