Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

Keyphrases

• Congenital Nephrotic Syndrome 100%
• WT1 mutation 100%
• Denys-Drash Syndrome 100%
• Formalin-fixed Paraffin-embedded Tissue 66%
• Missense 33%
• De-novo mutations 33%
• Genotype 33%
• Medical Care 33%
• Gene mutation 33%
• Medical Counseling 33%
• Genetic Counseling 33%
• Suppressor Genes 33%
• Wilms Tumor 33%
• Postmortem Examination 33%
• Diffuse Mesangial Sclerosis 33%
• Perinatal Death 33%
• Mutation Study 33%
• Frasier Syndrome 33%

INIS

• tissues 100%
• mutations 100%
• congenital diseases 100%
• refining 100%
• genes 75%
• paraffin 50%
• formalin 50%
• tumors 25%
• resources 25%
• death 25%
• genotype 25%
• gene mutations 25%
• genetics 25%

Medicine and Dentistry

• Congenital Nephrotic Syndrome 100%
• Denys Drash Syndrome 100%
• Formaldehyde 66%
• Counseling 33%
• Gene Mutation 33%
• Medical Care 33%
• Sclerosis 33%
• Genetic Counseling 33%
• Wilms' Tumor 33%
• Autopsy 33%
• Perinatal Death 33%
• Suppressor Gene 33%
• Frasier Syndrome 33%