Disease: Tight skin contracture syndrome- lethal
- A case of restrictive dermopathy with novel ZMPSTE24 gene mutation
- A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan
- A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy
- Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution
- Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy
- Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity
- Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity
- Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
- Lethal Restrictive Dermopathy with <em>ZMPSTE24</em> Mutation
- New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
- Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy
- Prelamin A processing and functional effects in restrictive dermopathy
- Premature aging syndromes: From patients to mechanism
- Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics
- Restrictive dermopathy in a Turkish newborn
- Restrictive Dermopathy: A Rare Disease with Unusual Radiographic Findings
- Restrictive Dermopathy: Four Case Reports and Structural Skin Changes
- Restrictive dermopathy: report of two siblings
- Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature
- Restrictive dermopathy. Report of two affected siblings and a review of the literature
- Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation
- The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine
- Unusual and recently described cutaneous atrophic disorders