Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

PURPOSE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in humans, with highly variable phenotypic expression. Whereas congenital heart defects, palatal anomalies, immunodeficiency, hypoparathyroidism, and neuropsychiatric conditions are observed in over 50% of patients w...

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Udgivet i:Genet Med
Main Authors: Unolt, Marta, Kammoun, Molka, Nowakowska, Beata, Graham, Gail E., Crowley, T. Blaine, Hestand, Matthew S., Demaerel, Wolfram, Geremek, Maciej, Emanuel, Beverly S., Zackai, Elaine H., Vermeesch, Joris R., McDonald-McGinn, Donna
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group US 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7197230/
https://ncbi.nlm.nih.gov/pubmed/31474763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0645-4
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