Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

BACKGROUND: Warsaw Breakage Syndrome (WABS) is an ultra rare cohesinopathy caused by biallelic mutation of DDX11 gene. It is clinically characterized by pre and postnatal growth delay, microcephaly, hearing loss with cochlear hypoplasia, skin color abnormalities, and dysmorphisms. METHODS: Mutationa...

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Foilsithe in:Mol Genet Genomic Med
Main Authors: Bottega, Roberta, Napolitano, Luisa M. R., Carbone, Anna, Cappelli, Enrico, Corsolini, Fabio, Onesti, Silvia, Savoia, Anna, Gasparini, Paolo, Faletra, Flavio
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2019
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Original Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503064/
https://ncbi.nlm.nih.gov/pubmed/30924321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.639
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