Disease: Mandibuloacral dysplasia with type B lipodystrophy
- A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome
- An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon
- Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
- Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the <em>ZMPSTE24</em> gene
- Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies
- Failure of ossification of the occipital bone in mandibuloacral dysplasia type B
- Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity
- Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
- Mandibuloacral dysplasia
- Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development
- Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
- Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
- Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis
- Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile
- Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing
- Precautions in using a perforator free flap to treat mandibuloacral dysplasia--a case report
- The Cutting Edge: The Role of mTOR Signaling in Laminopathies