Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease sclerosteosis
Comorbidity C0456909|vision loss
Sentences 1
PubMedID- 23565362 Recently, we have also described a novel mutation in a young female with increase bmd, syndactyly and progressive vision loss due to sclerosteosis and she had a frame shift mutation at c 296-297 in sc (bone.

Page: 1