1 Matching Annotations
  1. Apr 2022
    1. DICER1 syndrome (OMIM 606241, 601200)

      Gene Name: OMIN PMID: 34599283 Autosomal Dominant Gynandroblastoma cERMS Pediatric Paratesticular Sarcomas nephrolithiasis or nephrocalcinonsis Cystic Nephroma Anaplastic Sarcoma of Kidney Wilms tumor Cystic Hepatic Neoplasm Hamartomatous polyps

      Germline mutation heterozygosity Multiple Gene Variants There is usually a family history or a carrier for the mutation it rarely occurs out of nowhere.