Mauro Paradisi

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Karl‐Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner et al. · Nature Genetics · 2007 · 280 citations

Developmental Biology, Signal Transduction, Tissue Development +9

Methotrexate treatment in juvenile localized scleroderma: A randomized, double-blind, placebo-controlled trial

Francesco Zulian, Giorgia Martini, Cristina Vallongo et al. · Arthritis & Rheumatism · 2011 · 212 citations

Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families

Emmanuelle Bitoun, Stéphane Chavanas, Alan D. Irvine et al. · Journal of Investigative Dermatology · 2002 · 212 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype-Phenotype Correlation

Takahiro Hamada, Vesarat Wessagowit, Andrew P. South et al. · Journal of Investigative Dermatology · 2003 · 145 citations · Full text

Genetics, Extracellular Matrix, Lipoid Proteinosis +3

Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping

Stéphane Chavanas, Chad Garner, Christine Bodemer et al. · The American Journal of Human Genetics · 2000 · 131 citations · Full text

Biology, Netherton Syndrome Gene, Mendelian Disorder +9