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Results 1 - 10 of 26 for Lynch syndrome 8
  1. Lynch syndrome 
    ... Testing Registry: Lynch syndrome 5 Genetic Testing Registry: Lynch syndrome 8 Genetic Testing Registry: Hereditary nonpolyposis colon cancer Lynch syndrome National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/genetics/condition/lynch-syndrome - Genetics
  2. Constitutional mismatch repair deficiency syndrome 
    ... E, Wimmer K. Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants. NPJ Precis Oncol. 2024 May 24;8(1):119. doi: 10.1038/s41698-024-00603- ...
    https://medlineplus.gov/...ional-mismatch-repair-deficiency-syndrome - Genetics
  3. Adult polyglucosan body disease 
    ... on PubMed Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. doi: 10.1002/mus.10520. Citation on PubMed ...
    https://medlineplus.gov/.../adult-polyglucosan-body-disease - Genetics
  4. Coffin-Siris syndrome 
    ... B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  5. Perrault syndrome 
    ... article on PubMed Central Pierce SB, Chisholm KM, Lynch ED, ... S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  6. Juvenile polyposis syndrome 
    ... Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. The prevalence ... polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8. doi: 10.2353/jmoldx.2006. ...
    https://medlineplus.gov/.../condition/juvenile-polyposis-syndrome - Genetics
  7. Familial adenomatous polyposis 
    ... Clin Gastroenterol Hepatol. 2004 Aug;2(8):633-8. doi: ... PubMed Lynch HT, Shaw TG, Lynch JF. Inherited predisposition to ...
    https://medlineplus.gov/.../condition/familial-adenomatous-polyposis - Genetics
  8. Ovarian cancer 
    ... certain rare genetic syndromes, including a disorder called Lynch syndrome. Lynch syndrome accounts for between 10 and 15 percent of ... clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol ...
    https://medlineplus.gov/genetics/condition/ovarian-cancer - Genetics
  9. Aicardi-Goutières syndrome 
    ... AGS5 AICARDI-GOUTIERES SYNDROME 6; AGS6 AICARDI-GOUTIERES SYNDROME 8; AGS8 AICARDI-GOUTIERES SYNDROME 9; AGS9 PubMed Crow YJ, Chase DS, Lowenstein ... article on PubMed Central Stephenson JB. Aicardi-Goutieres syndrome (AGS). Eur J Paediatr Neurol. 2008 Sep;12(5):355-8. doi: 10.1016/j.ejpn.2007.11.010. ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  10. Fryns syndrome 
    ... Rueda-Pedraza ME, Chiricosta F, Keller R. Fryns syndrome: report of eight new cases. Genet Med. 2005 Jan;7(1):74-6. doi: 10.1097/01.gim.0000151337.68184.3f. No abstract available. Citation on PubMed Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
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