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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

MONDO:0013364

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.

Also known as: EP300 Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome caused by mutation in EP300, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome type 2, RSTS2, Rubinstein-Taybi syndrome 2

68 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Bone disorder (47) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7)
Trials to join now! 31 Not yet recruiting 11 Not yet finished but already full! 7 Completed 18 Terminated 1
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  • Scientists gather leftover surgical tissue to unlock secrets of bone disease

    Knowledge-focused Terminated

    This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

    Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:52 UTC

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