A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy

Int J Dermatol. 2012 Mar;51(3):325-7. doi: 10.1111/j.1365-4632.2011.04973.x.

Authors

Emily Avitan-Hersh¹, Margarita Indelman, Ziyad Khamaysi, Rina Leibu, Reuven Bergman

Affiliation

¹ Department of Dermatology Laboratory of Molecular Dermatology Department of Ophthalmology Rambam Health Care Campus Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel. e_avitan@rambam.health.gov.il

PMID: 22348569
DOI: 10.1111/j.1365-4632.2011.04973.x

No abstract available

Publication types

Case Reports

MeSH terms

Cadherins / genetics*
Child, Preschool
Codon, Nonsense*
Humans
Hypotrichosis / complications
Hypotrichosis / genetics*
Macular Degeneration / complications
Macular Degeneration / genetics*
Male

Substances

CDH3 protein, human
Cadherins
Codon, Nonsense