Human genes for stiff skin syndrome
Stiff skin syndrome [DOID:0111561]
A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1.
Synonyms: stiff skin syndrome, DOID:0111561, stiff skin disease, stiff skin disorder, stiff skin syndromes ...