An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. Here we identified a novel homozygous founder frameshift variant in CEP55,...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Rawlins, Lettie E., Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V., Chioza, Barry A., Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H., Baple, Emma L.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2019
Gaiak:
Brief Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6420058/
https://ncbi.nlm.nih.gov/pubmed/30622327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0306-0
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