Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. [electronic resource]
- Human molecular genetics Jun 2015
- 3038-49 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddv053 doi
Adolescent Amelogenesis Imperfecta--diagnostic imaging Animals Base Sequence Child Consanguinity DNA Mutational Analysis Female Frameshift Mutation Genetic Association Studies Humans Latent TGF-beta Binding Proteins--genetics Male Mice Mice, Inbred C57BL Mice, Knockout Mutation, Missense Osteochondrodysplasias--diagnostic imaging Pedigree Radiography Sequence Deletion