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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Original Articles
Online dostop: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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