Autor: Tingting Ge
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Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review
ObjectiveThis study aims to delineate the prenatal ultrasound characteristics of four cases of Rubinstein-Taybi syndrome type 2 (RSTS2) and explore potential associations with this condition as detected through prenatal ultrasound.MethodsWhole exome se…