Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children

BACKGROUND: Rubinstein–Taybi syndrome (RSTS) is a rare autosomal‐dominant genetic disease caused by variants of CREBBP (RSTS1) or EP300 (RSTS2) gene. RSTS2 is much less common, with less than 200 reported cases worldwide to date. More reports are still needed to increase the understanding of its cli...

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Detalles Bibliográficos
Autores principales: Du, Caiqi, Li, Zhuoguang, Zou, Biao, Li, Xuesong, Chen, Fan, Liang, Yan, Luo, Xiaoping, Shu, Sainan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496081/
https://www.ncbi.nlm.nih.gov/pubmed/37162176
http://dx.doi.org/10.1002/mgg3.2192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496081/
https://www.ncbi.nlm.nih.gov/pubmed/37162176
http://dx.doi.org/10.1002/mgg3.2192

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