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16 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. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Pigmenti Port-Wine Stain Prolidase Deficiency Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome Sclerema Neonatorum Trichothiodystrophy Syndromes Xeroderma Pigmentosum Stomatognathic System ...
  4. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 831.766 Pseudoxanthoma Elasticum C16.131.831.775 Rothmund-Thomson Syndrome C16.131.831.812 Sclerema Neonatorum C16.131. ... 850.750 Pseudoxanthoma Elasticum C16.320.850.765 Rothmund-Thomson Syndrome C16.320.850.820 Sjogren-Larsson Syndrome C16. ...
  5. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 831.766...........................................Pseudoxanthoma Elasticum C16.131.831.775...........................................Rothmund-Thomson Syndrome C16.131.831.812...........................................Sclerema Neonatorum C16.131. ...
  6. 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 ...
  7. 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 ...
  8. 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 >< ...
  9. 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): ...
  10. 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 ...
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