Sclerosteosis
OMIM:269500Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the musculoskeletal system and connective tissue
Mutations
| Gene Symbol | SOST |
|---|---|
| Reference transcript | NM_025237.2 |
| DNA Change | c.79C>T |
| A.A. Change | p.Gln27X |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Belkhribchia 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] |