Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Camurati-Engelmann disease

OMIM:131300
Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolTGFB1
Reference transcriptNM_000660.4
DNA Changec.466C>T
A.A. Changep.Arg156Cys
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceSimsek 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.