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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Detalles Bibliográficos
Autores principales: Hadzsiev, Kinga, Gyorsok, Zsuzsanna, Till, Agnes, Czakó, Márta, Bartsch, Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
Original Articles
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

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