Camurati-Engelmann disease
OMIM:131300Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | TGFB1 |
|---|---|
| Reference transcript | NM_000660.4 |
| DNA Change | c.466C>T |
| A.A. Change | p.Arg156Cys |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC.Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family. Osteoporos Int. 2005 Sep;16(9):1167-70. |