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11 results
  1. CDC73-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3789
    ... cortical tubers, subependymal nodules); kidney (angiomyolipomas, cysts, renal cell carcinomas); & heart (rhabdomyomas, arrhythmias); as well as seizures & intellectual disability / developmental ...
  2. Tuberous Sclerosis Complex - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1220
    ... kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... the lungs (pulmonary hypertension), which can lead to heart failure. Pulmonary hypertension occurs in about 10 percent of adults with sickle cell disease.</html:p><html:p >There are currently ...
  4. Childhood Heart Tumors (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547382
    ... Neurofibroma is a tumor that forms in the cells and tissues that cover nerves . The most common benign heart tumors that may occur in a fetus or newborn include rhabdomyoma, myxoma, teratoma, and fibroma. Most rhabdomyomas go away ...
  5. Primary Familial Brain Calcification - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1421
    ... intellectual disability/developmental delay), kidney (angiomyolipomas, cysts), and heart (rhabdomyomas, arrhythmias). The cerebral hamartomas may be calcified, however, ...
  6. Childhood Soft Tissue Sarcoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65923
    ... However, it may help manage selected cases in adults with clear cell sarcoma and epithelioid sarcoma. There are insufficient data ... type fibrosarcoma is composed of monomorphic fibroblastic tumor cells. Some of the genomic features of adult-type fibrosarcoma have been recently described.[ 81 ] These ...
  7. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... S, Abt AB, Boal DK, et al.: Fetal rhabdomyoma and nevoid basal cell carcinoma syndrome. Pediatr Pathol 12 (3): 441-7, ... et al.: Subsequent skin cancers in kidney and heart transplant recipients after the first squamous cell carcinoma. Transplantation 81 (8): 1093-100, 2006. [ PubMed : ...
  8. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... PC, Torres VE, Johnson JN, Chebib FT. Congenital heart disease in adults with autosomal dominant polycystic kidney disease. Am J ... mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. J Mol Cell Cardiol. 2013; 58 :199–208. [ PMC free article : ...
  9. KCNT1-Related Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK525917
    ... TCS2 MRI brain lesions (subependymal nodules, subependymal giant cell astrocytomas, tubers, focal cortical dysplasias) Cardiac rhabdomyoma, skin lesions, retinal lesions, renal lesions Consideration of ...
  10. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... complex AD Multiple & bilateral cysts & angiomyolipomas, oncocytomas, renal cell carcinoma Cortical tubers, astrocytomas; epilepsy, ID; cutaneous angiofibromas, hypopigmented patches; retinal hamartoma; cardiac rhabdomyoma; pulmonary LAM; VHL von Hippel-Lindau syndrome AD ...
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