Associated Papers
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.
Gostyńska KB et al.
European Journal of Human Genetics : Ejhg, 2016
Type XVII collagen is a key player in tooth enamel formation.
Asaka T et al.
The American Journal of Pathology, 2009
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Murrell DF et al.
The Journal of Investigative Dermatology, 2007
Mutation in Mpzl3, a novel [corrected] gene encoding a predicted [corrected] adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities.
Cao T et al.
The Journal of Investigative Dermatology, 2007
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
Pasmooij AM et al.
The British Journal of Dermatology, 2007
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