Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

OBJECTIVE: Roberts syndrome (RBS), also known as Roberts‐SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene. Cardinal clinical manifestations are pre‐ and postnatal growth retardation and craniofacial and limb malformations. Here, we re...

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Detalles Bibliográficos
Autores principales: He, Shuang, Chen, Shuai, Li, Shu‐Jian, Zhang, Jie‐Wen, Liang, Xin‐Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265053/
https://www.ncbi.nlm.nih.gov/pubmed/37002187
http://dx.doi.org/10.1002/mgg3.2177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265053/
https://www.ncbi.nlm.nih.gov/pubmed/37002187
http://dx.doi.org/10.1002/mgg3.2177

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