Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically characterized...

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Detalles Bibliográficos
Autores principales: Stewart, Douglas R., Pemov, Alexander, Johnston, Jennifer J., Sapp, Julie C., Yeager, Meredith, He, Ji, Boland, Joseph F., Burdett, Laurie, Brown, Christina, Gatti, Richard A., Alter, Blanche P., Biesecker, Leslie G., Savage, Sharon A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043752/
https://www.ncbi.nlm.nih.gov/pubmed/24892279
http://dx.doi.org/10.1371/journal.pone.0098686

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043752/
https://www.ncbi.nlm.nih.gov/pubmed/24892279
http://dx.doi.org/10.1371/journal.pone.0098686

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