Huckert, Mathilde

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