LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta

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 al...

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Autors principals: Kim, J.W., Seymen, F., Lee, K.E., Ko, J., Yildirim, M., Tuna, E.B., Gencay, K., Shin, T.J., Kyun, H.K., Simmer, J.P., Hu, J.C.-C.
Format: Artigo
Idioma:Inglês
Publicat: SAGE Publications 2013
Matèries:
Research Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3775375/
https://ncbi.nlm.nih.gov/pubmed/23958762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0022034513502054
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