Síndrome de rotura de Varsovia: una causa de microcefalia congénita y sordera neurosensorial

INTRODUCTION. Warsaw breakage syndrome is a very rare genetic disorder due to biallelic pathogenic variants in DDX11 gene, with a role in the sister chromatid cohesion process, and classified in the cohesinophaties group. It is characterized by the clinical triad of growth restriction, microcephaly...

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Detalles Bibliográficos
Autores principales: Arroyo-Carrera, Ignacio, Solo de Zaldívar-Tristancho, María, García Navas-Núñez, Verónica D., Ramajo-Polo, Alba, Gutiérrez-Agujetas, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Viguera Editores (Evidenze Group) 2023
Materias:
Nota Clínica
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364041/
https://www.ncbi.nlm.nih.gov/pubmed/36703504
http://dx.doi.org/10.33588/rn.7603.2022165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364041/
https://www.ncbi.nlm.nih.gov/pubmed/36703504
http://dx.doi.org/10.33588/rn.7603.2022165

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