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12 results
  1. Rothmund-Thomson syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome
    ... gov Catalog of Genes and Diseases from OMIM ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2 Scientific Articles on PubMed PubMed References Hicks MJ, Roth JR, Kozinetz CA, Wang LL. ...
  2. RECQL4 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/recql4
    ... of RAPADILINO syndrome. More About This Health Condition Rothmund-Thomson syndrome More than 40 mutations in the RECQL4 gene have been found in people with Rothmund-Thomson syndrome. These mutations likely prevent the production of any ...
  3. RAPADILINO syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/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 ...
  4. Baller-Gerold syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/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 ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome</url><title >Rothmund-Thomson syndrome</title><other_names >< ...
  6. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: MedlinePlus Genetics 
    https://medlineplus.gov/...tractures-myopathy-and-pulmonary-fibrosis
    ... and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? Eur J Dermatol. 2008 Nov-Dec;18(6): ...
  7. Bone Diseases | MedlinePlus 
    https://medlineplus.gov/bonediseases.html
    ... chondrodysplasia punctata: MedlinePlus Genetics (National Library of Medicine) Rothmund-Thomson syndrome: MedlinePlus Genetics (National Library of Medicine) Schwartz-Jampel ...
  8. Skin Conditions | Hives | Acne | MedlinePlus 
    https://medlineplus.gov/skinconditions.html
    ... cutaneous amyloidosis: MedlinePlus Genetics (National Library of Medicine) Rothmund-Thomson syndrome: MedlinePlus Genetics (National Library of Medicine) Scalp-ear- ...
  9. Poikiloderma with neutropenia: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/poikiloderma-with-neutropenia
    ... patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22): ...
  10. USB1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/usb1
    ... patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22): ...