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Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
Rubinstein–Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50–70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5–10% display an EP300 gene mutation (RSTS2). Craniospinal ab...
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| Publicado no: | Clin Dysmorphol |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6553355/ https://ncbi.nlm.nih.gov/pubmed/30789376 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MCD.0000000000000262 |
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