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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Váldodahkkit:	Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Wiley 2023-09-01
Ráidu:	Molecular Genetics & Genomic Medicine
Fáttát:	adrenal insufficiency EP300 genotype LC–MS/MS Rubinstein–Taybi syndrome
Liŋkkat:	https://doi.org/10.1002/mgg3.2192
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