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Results 1 - 10 of 27 for stones syndrome
  1. Fraser syndrome 
    ... Rissmann A, Queisser-Luft A, Verellen-Dumoulin C, Stone D, Tenconi R. Fraser syndrome: epidemiological study in a European population. Am J ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  2. Lesch-Nyhan syndrome 
    ... acid accumulation can also cause kidney and bladder stones.The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  3. Hyperparathyroidism-jaw tumor syndrome 
    ... in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.In people with hyperthyroidism-jaw tumor syndrome, hyperparathyroidism is caused by tumors that form in ...
    https://medlineplus.gov/.../hyperparathyroidism-jaw-tumor-syndrome - Genetics
  4. 8p11 myeloproliferative syndrome 
    ... Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 1998 Jan;18(1):84-7. ...
    https://medlineplus.gov/.../8p11-myeloproliferative-syndrome - Genetics
  5. McKusick-Kaufman syndrome 
    ... nlm.nih.gov/books/NBK1502/ Citation on PubMed Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000 May;25(1):79-82. ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  6. PDGFRA-associated chronic eosinophilic leukemia 
    ... Wlodarska I, Kantarjian H, Marynen P, Coutre SE, Stone R, Gilliland DG. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003 Mar 27;348( ...
    https://medlineplus.gov/...-associated-chronic-eosinophilic-leukemia - Genetics
  7. McLeod neuroacanthocytosis syndrome 
    ... syndrome National Organization for Rare Disorders (NORD) MCLEOD SYNDROME; MCLDS PubMed Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth ...
    https://medlineplus.gov/.../mcleod-neuroacanthocytosis-syndrome - Genetics
  8. Myhre syndrome 
    ... A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  9. Senior-Løken syndrome 
    ... ng1520. Epub 2005 Feb 20. Citation on PubMed Stone EM, ... amaurosis and Senior-Loken syndrome. Arch Ophthalmol. 2011 Jan;129(1):81-7. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  10. CYLD cutaneous syndrome 
    ... 3. Citation on PubMed Brown SM, Arefi M, Stones R, Loo PS, ... Dubois A, Rajan N. CYLD Cutaneous Syndrome. 2020 Apr 16. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
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