Associated Papers
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL et al.
European Journal of Human Genetics : Ejhg, 2014
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
Loucks C et al.
American Journal of Medical Genetics. Part A, 2012
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.
Miner JH
American Journal of Medical Genetics. Part A, 2010
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
Smigiel R et al.
American Journal of Medical Genetics. Part A, 2010
A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
Chen M et al.
American Journal of Medical Genetics. Part A, 2009
Unique disease heritage of the Dutch-German Mennonite population.
Orton NC et al.
American Journal of Medical Genetics. Part A, 2008
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.
Moulson CL et al.
The Journal of Investigative Dermatology, 2005
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