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

Abstract 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...

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Autors principals:	Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2023-09-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	adrenal insufficiency EP300 genotype LC–MS/MS Rubinstein–Taybi syndrome
Accés en línia:	https://doi.org/10.1002/mgg3.2192
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