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Results 1 - 10 of 57 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. BBS1 gene 
    ... RC, Luleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003 Feb; ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  3. CDC73 gene 
    ... in the blood, which can lead to kidney stones, osteoporosis, nausea, vomiting, hypertension, weakness, and fatigue in people with hyperparathyroidism-jaw tumor syndrome.Most of the CDC73 gene mutations that cause ...
    https://medlineplus.gov/genetics/gene/cdc73 - Genetics
  4. FOXC1 gene 
    ... Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation ( ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  5. HPRT1 gene 
    ... acid in the joints), kidney stones, and bladder stones. It is unclear how this enzyme deficiency causes the neurological and behavioral problems characteristic of Lesch-Nyhan syndrome. More About This Health Condition Certain mutations in ...
    https://medlineplus.gov/genetics/gene/hprt1 - Genetics
  6. 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
  7. BBS10 gene 
    ... Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  8. MKKS gene 
    ... 2002 May 9. Citation on PubMed Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):15-6. ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  9. 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
  10. 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
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