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Article

LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta

19 Aug 2013

Abstract excerpt

Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epidermolysis bullosa (JEB) is a collection of autosomal-recessive disorders featuring AI associated with skin fragility and other symptoms. JEB is a recessive syndrome usually caused by mutations in both alleles of COL17A1, LAMA3, LAMB3, or LAMC2. In rare cases, heterozygous carriers in JEB kindreds display enamel...

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PMID: 23958762
DOI: 10.1177/0022034513502054

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