Cargando…
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study
Interruption of the aortic arch (IAA) is a rare but life-threatening congenital heart defect if not corrected in the neonatal period. IAA type B is highly correlated with 22q11.2 deletion syndrome (22q11.2DS); approximately 50% of patients with IAA type B also have 22q11.2DS (Peyvandi et al.; Goldmu...
Autores principales: | Ron, Hayley A., Crowley, Terrence Blaine, Liu, Yichuan, Unolt, Marta, Schindewolf, Erica, Moldenhauer, Julie, Rychik, Jack, Goldmuntz, Elizabeth, Emanuel, Beverly S., Ryba, Douglas, Gaynor, James William, Zackai, Elaine H., Hakonarson, Hakon, McDonald-McGinn, Donna M. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859187/ https://www.ncbi.nlm.nih.gov/pubmed/36672801 http://dx.doi.org/10.3390/genes14010062 |
Ejemplares similares
-
A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome
por: Pastor, Steven, et al.
Publicado: (2022) -
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
por: Unolt, Marta, et al.
Publicado: (2019) -
Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
por: Benn, Peter, et al.
Publicado: (2017) -
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome
por: McGinn, Daniel E., et al.
Publicado: (2022) -
Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome
por: Gur, Ruben C., et al.
Publicado: (2021)