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Results 1 - 10 of 51 for pcs
  1. Pachyonychia congenita 
    ... Researchers used to classigy pachyonychia congenita as either PC-1 or PC-2 based on the genetic cause and pattern ... in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene variants cause PC-K6b, ...
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita - Genetics
  2. Pyruvate carboxylase deficiency 
    ... Indian tribes in eastern Canada. Mutations in the PC gene cause pyruvate carboxylase deficiency. This gene provides ... to communicate with one another.Mutations in the PC gene reduce the amount of pyruvate carboxylase in ...
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency - Genetics
  3. 49,XXXXY syndrome 
    ... ClinicalTrials.gov PubMed Counts DR, Yu C, Lasutschinkow PC, Sadeghin T, Gropman A, Samango-Sprouse CA. Evidence ... Citation on PubMed Gropman AL, Porter GF, Lasutschinkow PC, Sadeghin T, Tipton ES, Powell S, Samango-Sprouse ...
    https://medlineplus.gov/genetics/condition/49xxxxy-syndrome - Genetics
  4. VEXAS syndrome 
    ... JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. ... NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Somatic Mutations in UBA1 and Severe Adult-Onset ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  5. Primary hyperoxaluria 
    ... JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium. Phenotype-Genotype Correlations and ... 2012.113. Citation on PubMed Milliner DS, Harris PC, Sas DJ, Cogal AG, Lieske JC. Primary Hyperoxaluria ...
    https://medlineplus.gov/genetics/condition/primary-hyperoxaluria - Genetics
  6. Maffucci syndrome 
    ... JV, Pansuriya TC, Grimer RJ, Ozger H, Jutte PC, San Julian M, Biau DJ, van der Geest ... Gouin FG, Campanacci DA, Marec-Berard P, Hogendoorn PC, Brand R, Taminiau AH. Incidence, predictive factors, and ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
  7. Aicardi-Goutières syndrome 
    ... IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean ... E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  8. Cri-du-chat syndrome 
    ... Epub 2006 Apr 3. Citation on PubMed Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, ... Epub 2006 Jan 13. Citation on PubMed Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, ...
    https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome - Genetics
  9. Polycystic kidney disease 
    ... MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular characterization defines a broadened spectrum ... PubMed or Free article on PubMed Central Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. 2002 ...
    https://medlineplus.gov/genetics/condition/polycystic-kidney-disease - Genetics
  10. Ollier disease 
    ... JV, Pansuriya TC, Grimer RJ, Ozger H, Jutte PC, San Julian M, Biau DJ, van der Geest ... Gouin FG, Campanacci DA, Marec-Berard P, Hogendoorn PC, Brand R, Taminiau AH. Incidence, predictive factors, and ...
    https://medlineplus.gov/genetics/condition/ollier-disease - Genetics
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