Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience

Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency and velopharyngeal insufficiency, developmental delay, intellectual disability, cognitive impairment, and psychiatric disorders. New techn...

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Detalles Bibliográficos
Autores principales: Manno, Gabrielle C., Segal, Gabrielle S., Yu, Alexander, Xu, Fangling, Ray, Joseph W., Cooney, Erin, Britt, Allison D., Jain, Sunil K., Goldblum, Randall M., Robinson, Sally S., Dong, Jianli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8691803/
https://www.ncbi.nlm.nih.gov/pubmed/34938854
http://dx.doi.org/10.3934/molsci.2021020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8691803/
https://www.ncbi.nlm.nih.gov/pubmed/34938854
http://dx.doi.org/10.3934/molsci.2021020

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