Restrictive dermopathy: a rare laminopathy

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Anil K. Agarwal · Human Molecular Genetics · 2003 · 393 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 368 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Detecting single base substitutions as heteroduplex polymorphisms

Marga Belle White, Magda Carvalho, David Derse et al. · Genomics · 1992 · 359 citations

Life Sciences, Genetics, Molecular Genetics +6

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli et al. · Human Molecular Genetics · 2005 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy

Casey L. Moulson, Gloriosa Go, Jennifer M. Gardner et al. · Journal of Investigative Dermatology · 2005 · 150 citations · Full text

Medicine, Genetics, Molecular Genetics +5