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Results 1 - 6 of 6 for Telomere syndrome
  1. Coats plus syndrome 
    ... LY, Majerska J, Lingner J. Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev. 2013 Oct ... Lehesjoki AE. Mutations in CTC1, encoding the CTS telomere maintenance complex component ... or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  2. Nijmegen breakage syndrome 
    Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  3. Ring chromosome 14 syndrome 
    Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early ...
    https://medlineplus.gov/.../condition/ring-chromosome-14-syndrome - Genetics
  4. Dyskeratosis congenita 
    ... Revy P. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol Genet. 2013 Aug ... E, Vulliamy T, Dokal IS. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013 Mar;98(3):334-8. doi: ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  5. 3p deletion syndrome 
    ... chromosome but does not include the tip (the telomere).The signs and symptoms related to 3p deletion syndrome result from the loss of genes in the ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
  6. Poikiloderma with neutropenia 
    ... Dokal I. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22): ...
    https://medlineplus.gov/.../condition/poikiloderma-with-neutropenia - Genetics