Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report

BACKGROUND: Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with ESCO2 variants have not been repor...

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Detalles Bibliográficos
Autores principales: Zhu, LiFen, Cao, DingYa, Chen, Min, Zhang, Huimin, Sun, XiaoFang, Liu, WeiQiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8800352/
https://www.ncbi.nlm.nih.gov/pubmed/35093090
http://dx.doi.org/10.1186/s12920-022-01161-8

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