Article
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.
American journal of medical genetics. Part A - 1 Aug 2009
Snape Katie M G, Ruddy Deborah, Zenker Martin, Wuyts Wim, Whiteford Margo, Johnson Diana, Lam Wayne, Trembath Richard C
Abstract excerpt
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...
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