Article
Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
The American journal of pathology - 1 Nov 2012
Umemoto Hiroko, Akiyama Masashi, Domon Takanori, Nomura Toshifumi, Shinkuma Satoru, Ito Kei, Asaka Takuya, Sawamura Daisuke, Uitto Jouni, Uo Motohiro, Kitagawa Yoshimasa, Shimizu Hiroshi
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the gene encoding type VII collagen (COL7), a major component of anchoring fibrils in the epidermal basement membrane zone. Patients with RDEB present a low oral hygiene index and prevalent tooth abnormalities with caries. We examined the tooth enamel structure of an RDEB patient by scanning electron microscopy. It showed irregular enamel...
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