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Results 1 - 10 of 15 for CK syndrome
  1. NSDHL gene 
    ... Condition Variants in the NSDHL gene can cause CK syndrome, a condition characterized by intellectual disabilities and behavior ... abnormalities. Females who have a variant that causes CK syndrome are typically unaffected; however, some may experience mild ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  2. EPCAM gene 
    ... Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of ...
    https://medlineplus.gov/genetics/gene/epcam - Genetics
  3. CDH23 gene 
    ... R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, ... or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011 ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  4. SLC26A4 gene 
    ... PubMed Ito T, Choi BY, King KA, Zalewski CK, Muskett J, ... Pendred Syndrome (PDS/SLC26A) gene: an increasingly complex phenotypic spectrum ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  5. KIT gene 
    ... ep12399455. Citation on PubMed Spritz RA. Piebaldism, Waardenburg ... GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. ...
    https://medlineplus.gov/genetics/gene/kit - Genetics
  6. PURA gene 
    ... A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: clinical and molecular ... HM, Ding H, Jung CK, Bojarski L, Renner-Muller I, Schuller U, Kretzschmar ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  7. TERC gene 
    ... G, Chin KM, Torres F, Rosenblatt RL, Garcia CK. Telomere shortening in familial and sporadic pulmonary fibrosis. ... G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK. Adult-onset pulmonary fibrosis caused by mutations in ...
    https://medlineplus.gov/genetics/gene/terc - Genetics
  8. MPV17 gene 
    ... Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  9. FMR1 gene 
    ... Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL, Nelson LM. ...
    https://medlineplus.gov/genetics/gene/fmr1 - Genetics
  10. FLCN gene 
    ... PubMed Graham RB, Nolasco M, Peterlin B, Garcia CK. Nonsense mutations in folliculin presenting as isolated familial ... follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell. 2002 Aug;2(2):157-64. ...
    https://medlineplus.gov/genetics/gene/flcn - Genetics
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