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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4043752/
https://ncbi.nlm.nih.gov/pubmed/24892279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0098686
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