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

Sclerosteosis

OMIM:269500
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the musculoskeletal system and connective tissue


Mutations

Gene SymbolSOST
Reference transcriptNM_025237.2
DNA Changec.79C>T
A.A. Changep.Gln27X
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceBelkhribchia MR, Collet C, Laplanche JL, Hassani R.Novel SOST gene mutation in a sclerosteosis patient from Morocco: A case report.
Eur J Med Genet. 2014 Mar 1. [Epub ahead of print]