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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Detalles Bibliográficos
Autores principales: Bottega, Roberta, Napolitano, Luisa M. R., Carbone, Anna, Cappelli, Enrico, Corsolini, Fabio, Onesti, Silvia, Savoia, Anna, Gasparini, Paolo, Faletra, Flavio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503064/
https://www.ncbi.nlm.nih.gov/pubmed/30924321
http://dx.doi.org/10.1002/mgg3.639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503064/
https://www.ncbi.nlm.nih.gov/pubmed/30924321
http://dx.doi.org/10.1002/mgg3.639

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