Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Phenotype C0011644|scleroderma
Sentences 1
PubMedID- 22801769 In the stiff skin syndrome (sss; mim#184900), a rare, autosomal dominant condition of congenital scleroderma (thickened skin) associated with short stature, domain-specific fbn1 mutations have been identified.

Page: 1