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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197230/
https://www.ncbi.nlm.nih.gov/pubmed/31474763
http://dx.doi.org/10.1038/s41436-019-0645-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197230/
https://www.ncbi.nlm.nih.gov/pubmed/31474763
http://dx.doi.org/10.1038/s41436-019-0645-4

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