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Title
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The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
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Author
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Abstract
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| The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams-Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams-Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders. |
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Language
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English
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Source (journal)
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American journal of medical genetics : part A. - Bognor Regis, 2003, currens
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Publication
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Bognor Regis
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2009
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ISSN
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1552-4825
[print]
1552-4833
[online]
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DOI
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10.1002/AJMG.A.32708
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Volume/pages
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149
:8
(2009)
, p. 1860-1881
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ISI
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000268796000062
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Full text (Publisher's DOI)
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