Neurology / Neuropediatrics

• Waardenburg syndrome (deletion/duplication analysis of SOX10 and EDNRB genes) + info
   
• Waardenburg syndrome (deletion/duplication analysis of TYR gene) + info
   
• Waardenburg syndrome (NGS panel of 7 genes) + info
   
• Waardenburg syndrome type 2 (sequence analysis of MITF gene) + info
   
• Waardenburg syndrome type 2D (deletion/duplication anlaysis on SNAI2 gene) + info
   
• Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes) + info
   
• Waardenburg syndrome type 4 (sequence analysis of SOX10 gene) + info
   
• Waardenburg syndrome type 4A (sequence analysis of EDNRB gene) + info
   
• Waardenburg syndrome type 4B (sequence analysis of EDN3 gene) + info
   
• Waardenburg syndrome type 4B | Congenital central hypoventilation syndrome (deletion/duplication analysis on EDN3) + info
   
• Waardenburg syndrome types 1 and 3 (deletion/duplication analysis on PAX3, MITF and SOX10 genes) + info
   
• Waardenburg syndrome types 1 and 3 (sequence analysis of PAX3 gene) + info
   
• Waardenburg syndrome, type 2D (sequence analysis of SNAI2 gene) + info
   
• WAGR syndrome (deletion/duplication analysis on WT1 gene) + info
   
• Walker-Warburg syndrome (sequence analysis of ISPD gene) + info
   
• Walker-Warburg syndrome (sequence analysis of POMT1 gene) + info
   
• Walker-Warburg syndrome (sequence analysis of POMT2 gene) + info
   
• Walker-Warburg syndrome |Congenital muscular dystrophy with mental retardation | Limb-girdle muscular dystrophies (dystroglycanopathies types A2, B2 and C2, deletion/duplication analysis on POMT2 gene) + info
   
• Warburg micro syndrome 3 (sequence analysis of RAB18 gene) + info
   
• Warburg micro syndrome type 1 (sequence analysis of RAB3GAP1 gene) + info
   

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