Associated Papers
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.
Nasir M et al.
Diagnostic Pathology, 2011
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
Epilepsy and migraine in a patient with Urbach-Wiethe disease.
Claeys KG et al.
Seizure, 2007
Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis.
Han B et al.
Acta Dermato-venereologica, 2007
Molecular basis of lipoid proteinosis in two Indian siblings.
Chan I et al.
The Journal of Dermatology, 2004
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