Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis

Marcel Huber, Irmingard Rettler, Katja Bernasconi et al. · Science · 1995 · 485 citations

Medicine, Genetics, Molecular Genetics +16

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Caroline Lefèvre, Florence Jobard, F. Caux et al. · The American Journal of Human Genetics · 2001 · 463 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

Laura Russell, John J. DiGiovanna, Geraldine R. Rogers et al. · Nature Genetics · 1995 · 362 citations

Life Sciences, Genetics, Molecular Genetics +11

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

David P. Kelsell, Elizabeth E. Norgett, H Unsworth et al. · The American Journal of Human Genetics · 2005 · 356 citations · Full text

Life Sciences, Dermatology, Genetics +11

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Caroline Lefèvre · Human Molecular Genetics · 2003 · 292 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17