Cargando…
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
OBJECTIVE: Chromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated the deletion's impact on survival and its clinical manifestations in a...
Autores principales: | Repetto, Gabriela M, Guzmán, M Luisa, Delgado, Iris, Loyola, Hugo, Palomares, Mirta, Lay-Son, Guillermo, Vial, Cecilia, Benavides, Felipe, Espinoza, Karena, Alvarez, Patricia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225234/ https://www.ncbi.nlm.nih.gov/pubmed/25377008 http://dx.doi.org/10.1136/bmjopen-2014-005041 |
Ejemplares similares
-
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
por: León, Luis E., et al.
Publicado: (2017) -
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
por: Rozas, M. Fernanda, et al.
Publicado: (2019) -
Optimising immunisation in children with 22q11 microdeletion
por: Berkhout, Angela, et al.
Publicado: (2020) -
8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
por: Rincon, Alejandra, et al.
Publicado: (2019) -
Age‐Related Parkinsonian Signs in Microdeletion 22q11.2
por: Boot, Erik, et al.
Publicado: (2020)