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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553355/ https://www.ncbi.nlm.nih.gov/pubmed/30789376 http://dx.doi.org/10.1097/MCD.0000000000000262 |