Article
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
Journal of medical genetics - 1 Feb 2013
McDonald-McGinn Donna M, Fahiminiya Somayyeh, Revil Timothée, Nowakowska Beata A, Suhl Joshua, Bailey Alice, Mlynarski Elisabeth, Lynch David R, Yan Albert C, Bilaniuk Larissa T, Sullivan Kathleen E, Warren Stephen T, Emanuel Beverly S, Vermeesch Joris R, Zackai Elaine H, Jerome-Majewska Loydie A
Abstract excerpt
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder, affecting an estimated 1 : 2000-4000 live births. Patients with 22q11.2DS have a broad spectrum of phenotypic abnormalities which generally includes congenital cardiac abnormalities, palatal anomalies, and immunodeficiency. Additional findings, such as skeletal anomalies and autoimmune disorders, can confer significant...
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