L. Carvajal-Huerta

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

D. Kelsell, I. Leigh, N. Whittock, 2000, Human molecular genetics.

Structural and molecular pathology of the heart in Carvajal syndrome.

G. Thiene, J. Saffitz, S. Kaplan, 2004, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.

L. Carvajal-Huerta, 1998, Journal of the American Academy of Dermatology.