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Autosomal dominant disease References



Ammash NM, Sundt TM, Connolly HM. Marfan syndrome-diagnosis and management. Curr Probl Cardiol. 2008 Jan;33(1):7-39.
Burke W. Genetic testing. N Engl J Med. 2002 Dec 5;347(23):1867-75.
Carreiro-Lewandowski E. Newborn screening: an overview.... read more