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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| 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 |