DLL4loss-of-function heterozygous mutations cause Adams-Oliver syndrome
Author:
Affiliation:
1. Department of Medical Genetics, Center for Molecular Medicine and Therapeutics; The Canadian Pharmacogenomic Network for Drug Safety; Vancouver Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference3 articles.
1. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects;Snape;Am J Med Genet A,2009
2. RBPJ mutations identified in two families affected by Adams-Oliver syndrome;Hassed;Am J Hum Genet,2012
3. Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies;Southgate;Circ Cardiovasc Genet,2015
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