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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Gepubliceerd in:Genet Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group US 2019
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Article
Online toegang: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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