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Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Cabral RM, et al. Among authors: baselaga pa. J Invest Dermatol. 2010 Jun;130(6):1543-50. doi: 10.1038/jid.2010.7. Epub 2010 Feb 4. J Invest Dermatol. 2010. PMID: 20130592 Free article.