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