Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

BACKGROUND: Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In...

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Detalles Bibliográficos
Autores principales: Yokoyama, Emiy, Villarroel, Camilo E., Diaz, Sinhué, Del Castillo, Victoria, Pérez-Vera, Patricia, Salas, Consuelo, Gómez, Samuel, Barreda, Reneé, Molina, Bertha, Frias, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7487539/
https://www.ncbi.nlm.nih.gov/pubmed/32939224
http://dx.doi.org/10.1186/s13039-020-00510-5

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