Neurology / Neuropediatrics

• Van Buchem disease (sequence analysis of SOST gene) + info
   
• Variant Rett Syndrome | Early infantile epileptic encephalopathy (sequence analysis of CDKL5 gene) + info
   
• Vitamin B12 Deficiency (NGS panel of 20 genes) + info
   
• Vitamin D-dependent rickets type I (sequence analysis of CYP27B1 gene) + info
   
• Vitreoretinopathy (NGS panel of 27 genes) + info