Article
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circulation. Cardiovascular genetics - 1 Aug 2015
Southgate Laura, Sukalo Maja, Karountzos Anastasios S V, Taylor Edward J, Collinson Claire S, Ruddy Deborah, Snape Katie M, Dallapiccola Bruno, Tolmie John L, Joss Shelagh, Brancati Francesco, Digilio M Cristina, Graul-Neumann Luitgard M, Salviati Leonardo, Coerdt Wiltrud, Jacquemin Emmanuel, Wuyts Wim, Zenker Martin, Machado Rajiv D, Trembath Richard C
Abstract excerpt
BACKGROUND: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affect...
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