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22q11.2 deletion syndrome
Nature Reviews Disease Primers volume 1, Article number: 15072 (2015)
22q11.2 deletion syndrome is clinically variable, causing palatal anomalies, immune dysfunction, endocrine abnormalities and cognitive and behavioural delays, among others. This PrimeView focuses on the aetiology, which involves the deletion of a fragment of chromosome 22 (22q11.2).
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22q11.2 deletion syndrome. Nat Rev Dis Primers 1, 15072 (2015). https://doi.org/10.1038/nrdp.2015.72
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DOI: https://doi.org/10.1038/nrdp.2015.72
