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12 results
  1. Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1526
    ... facial features and hand and foot abnormalities, the diagnosis of Rubinstein-Taybi syndrome (RSTS) is usually straightforward. Broad/angulated thumbs and halluces ...
  2. Rubinstein-Taybi syndrome 
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome
    ... CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum ...
  3. CREBBP gene 
    https://medlineplus.gov/genetics/gene/crebbp
    ... CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117(5):485-93. doi: 10.1007/s00439-005-1331-y. Epub 2005 Jul 14. Citation ... Syndrome: spectrum of CREBBP mutations in Italian patients. BMC ...
  4. Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1104
    ... myopia, BOS posture 4 , prominent globes EP300 EP300 Rubinstein-Taybi Syndrome (RSTS) AD DD/ID, small stature, hypertrichosis, full eyebrows, ... low-hanging columella, the facial features in EP300 -RSTS are less marked. Although the thumbs and ... 7. O'Rawe et al [2015] 8. Alazami ...
  5. Genetic Conditions: R 
    https://medlineplus.gov/genetics/condition-r
    ... Rigid spine muscular dystrophy RSS, see Russell-Silver syndrome RSTS, see Rubinstein-Taybi syndrome RTA with progressive nerve deafness, see Renal tubular ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... gov/genetics/condition/rubinstein-taybi-syndrome</url><title >Rubinstein-Taybi syndrome</title><other_names ><other_name >Broad thumb-hallux syndrome</other_name><other_name >RSTS</other_name><other_name >RTS</other_name></other_ ...
  7. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... text-role >description</text-role><html ><html:p >Rubinstein-Taybi ... and symptoms vary among affected individuals. People with this condition ...