Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

BACKGROUND: Although pathogenic 22q11.2 deletions are an important cause of developmental delays and lifelong disease burden, their variable and complex clinical expression contributes to under-recognition, delayed molecular diagnosis and uncertainty about prevalence. We sought to estimate the conte...

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Detalles Bibliográficos
Autores principales: Blagojevic, Christina, Heung, Tracy, Theriault, Mylene, Tomita-Mitchell, Aoy, Chakraborty, Pranesh, Kernohan, Kristin, Bulman, Dennis E., Bassett, Anne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: CMA Joule Inc. 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8373039/
https://www.ncbi.nlm.nih.gov/pubmed/34404688
http://dx.doi.org/10.9778/cmajo.20200294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8373039/
https://www.ncbi.nlm.nih.gov/pubmed/34404688
http://dx.doi.org/10.9778/cmajo.20200294

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