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16 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. ... Progressive osseous heteroplasia Poikiloderma atrophicans and cataract, see Rothmund-Thomson syndrome Poikiloderma congenitale, see Rothmund-Thomson syndrome Poikiloderma congenitale ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome</url><title >Rothmund-Thomson syndrome</title><other_names >< ...
  8. ... XI deficiency Rosenthal's disease, see Factor XI deficiency Rothmund-Thomson syndrome Rotor syndrome Round-headed spermatozoa, see Globozoospermia RP, ...
  9. ... chondrodysplasia punctata: MedlinePlus Genetics (National Library of Medicine) Rothmund-Thomson syndrome: MedlinePlus Genetics (National Library of Medicine) Schwartz-Jampel ...
  10. ... cutaneous amyloidosis: MedlinePlus Genetics (National Library of Medicine) Rothmund-Thomson syndrome: MedlinePlus Genetics (National Library of Medicine) Scalp-ear- ...
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