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Results 1 - 7 of 7 for "Rothmund-Thomson" syndrome
Did you mean "rothman-thomas" syndrome?
  1. Rothmund-Thomson syndrome 
    Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  2. RECQL4 gene 
    ... RECQL4 gene have been found in people with Rothmund-Thomson syndrome. These mutations likely prevent the production of any ... these changes result in the characteristic features of Rothmund-Thomson syndrome, which include a skin rash, sparse hair, small ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  3. RAPADILINO syndrome 
    ... of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray ... similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  4. Baller-Gerold syndrome 
    ... syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized ... similarities, researchers are investigating whether Baller-Gerold syndrome, ... syndrome, and RAPADILINO syndrome are separate disorders or part ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  5. Poikiloderma with neutropenia 
    ... 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
  6. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
    ... and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? Eur J Dermatol. 2008 Nov-Dec;18(6): ...
    https://medlineplus.gov/...tractures-myopathy-and-pulmonary-fibrosis - Genetics
  7. USB1 gene 
    ... patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22): ...
    https://medlineplus.gov/genetics/gene/usb1 - Genetics