DISEASES

Disease-gene associations mined from literature

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 ...