Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic...

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Detalles Bibliográficos
Autores principales: Szczawińska-Popłonyk, Aleksandra, Schwartzmann, Eyal, Chmara, Zuzanna, Głukowska, Antonina, Krysa, Tomasz, Majchrzycki, Maksymilian, Olejnicki, Maurycy, Ostrowska, Paulina, Babik, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179617/
https://www.ncbi.nlm.nih.gov/pubmed/37176024
http://dx.doi.org/10.3390/ijms24098317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179617/
https://www.ncbi.nlm.nih.gov/pubmed/37176024
http://dx.doi.org/10.3390/ijms24098317

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