Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overla...
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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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 and performed exome sequencing and high-density a...
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Full title
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
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TN_cdi_plos_journals_1531988877
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1531988877
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0098686
