McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. (2015) Nature Reviews Disease Primers 1:15071. doi: 10.1038/nrdp.2015.71.
American Journal of Medical Genetics – Published October 31st, 2018.
22q11.2 deletion syndrome: A tiny piece leading to a big picture
Molecular genetics of 22q11.2 deletion syndrome
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias
Club foot in association with the 22q11.2 deletion syndrome: An observational study
Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome
Longitudinal perspectives on the psychosis spectrum in 22q11.2 deletion syndrome
22q and two: 22q11.2 deletion syndrome and coexisting conditions
The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review
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Eye problems in children with 22q11.2 Duplication