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235 results
  1. ... gov Catalog of Genes and Diseases from OMIM PROTEUS SYNDROME Scientific Articles on PubMed PubMed References Biesecker L. The challenges of Proteus syndrome: diagnosis ...
  2. ... own window Gene Disorder Reported Pathogenic Variants 1 Reference Sequences AKT1 Proteus syndrome c.49G>A (p.Glu17Lys) NM_005163 ​.2 ...
  3. ... of the United States Copyright Act, the GeneReview "Proteus Syndrome" is in the public domain in the United States of America. References Literature Cited Abell K, Tolusso L, Smith N, ...
  4. ... glans penis [ Gorlin et al 1992 ]. PTEN -Related Proteus Syndrome PTEN -related Proteus syndrome (PS) is highly variable ... polyps seen in Peutz-Jeghers syndrome . PTEN -Related Proteus Syndrome (PS) PS is characterized by progressive segmental or ...
  5. ... become cancerous. Health Conditions Related to Genetic Changes Proteus syndrome At least one mutation in the AKT1 gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the ...
  6. ... et al. Histogenesis of vascular tumors in the Proteus syndrome. South Med J. 1994 Feb; 87 (2):228– ... Gulhan Y, Cakan T, et al. Anaesthesia for Proteus syndrome. Eur J Anaesthesiol. 2000 Oct; 17 (10):645– ...
  7. ... Thyroglossal Cyst Urachal Cyst Hamartoma Hamartoma Syndrome, Multiple Proteus Syndrome Pallister-Hall Syndrome Tuberous Sclerosis Neoplasms by Histologic ...
  8. ... 435 Hamartoma Syndrome, Multiple C04.445.435.500 Proteus Syndrome C04.445.622 Pallister-Hall Syndrome C04.445. ... 435 Hamartoma Syndrome, Multiple C04.651.435.500 Proteus Syndrome C04.651.600 Multiple Endocrine Neoplasia C04.651. ...
  9. ... 435...........................................Hamartoma Syndrome, Multiple C04.445.435.500...........................................Proteus Syndrome C04.445.622...........................................Pallister-Hall Syndrome C04.445. ...
  10. ... change in a related gene) is associated with Proteus syndrome [ Lindhurst et al 2011 ]. 2. Deletions resulting in ... a de novo PTEN pathogenic variant. PTEN -related Proteus syndrome and Proteus-like syndrome are also autosomal dominant ...
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