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25 results
  1. ... disorder. Learn more about the gene associated with Rothmund-Thomson syndrome RECQL4 Inheritance This condition is inherited in an ...
  2. ... 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. ... 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 ...
  4. ... Pigmenti Port-Wine Stain Prolidase Deficiency Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome Sclerema Neonatorum Trichothiodystrophy Syndromes Xeroderma Pigmentosum Stomatognathic System ...
  5. ... 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. ...
  6. ... 831.766...........................................Pseudoxanthoma Elasticum C16.131.831.775...........................................Rothmund-Thomson Syndrome C16.131.831.812...........................................Sclerema Neonatorum C16.131. ...
  7. ... Progressive osseous heteroplasia Poikiloderma atrophicans and cataract, see Rothmund-Thomson syndrome Poikiloderma congenitale, see Rothmund-Thomson syndrome Poikiloderma congenitale ...
  8. ... 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 ...
  9. ... 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 ...
  10. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome</url><title >Rothmund-Thomson syndrome</title><other_names >< ...
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