Human genes for lethal restrictive dermopathy
Lethal restrictive dermopathy [DOID:0060762]
A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
Synonyms: lethal restrictive dermopathy, DOID:0060762, lethal restrictive dermopathies, hyperkeratosis-contracture syndrome, tight skin contracture syndrome ...