P. A. Baselaga

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.

D. Kelsell, J. McGrath, C. Mein, 2010, The Journal of investigative dermatology.

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP

D. Kelsell, J. McGrath, A. South, 2016, The British journal of dermatology.