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

Karl‐Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner, +14

Nature Genetics

Developmental BiologySignal TransductionTissue DevelopmentSignaling PathwayPhysiology +7

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

Francesco Zulian, Giorgia Martini, Cristina Vallongo, +12

Arthritis & Rheumatism

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

Emmanuelle Bitoun, Stéphane Chavanas, Alan D. Irvine, +10

Journal of Investigative Dermatology

Mendelian DisorderGenetic DisorderGeneticsSpink5 MutationsGenetic Epidemiology +7

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

Takahiro Hamada, Vesarat Wessagowit, Andrew P. South, +18

Journal of Investigative Dermatology

GeneticsExtracellular MatrixLipoid ProteinosisMedicineCell Biology +1

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

Stéphane Chavanas, Chad Garner, Christine Bodemer, +14

The American Journal of Human Genetics

BiologyNetherton Syndrome GeneMendelian DisorderCytogeneticsGenetic Disorder +7

<i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, +31

Human Mutation

Developmental BiologySomatic VariantMendelian DisorderGenetic DisorderMedicine +12

Annular lichenoid dermatitis of youth

Giorgio Annessi, Mauro Paradisi, Corrado Angelo, +3

Journal of the American Academy of Dermatology

HistopathologyAnnular Lichenoid DermatitisContact DermatitisClinical DermatologyDermatology +2

Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

Alessandro Terrinoni, Frances J.D. Smith, Biagio Didona, +10

Journal of Investigative Dermatology

Recurrent MutationsGeneticsMolecular GeneticsDermatologyMedicine +1

Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa

Rita Gardella, Daniele Castiglia, Patrizia Posteraro, +8

Journal of Investigative Dermatology

Genetic EpidemiologyGenotype–phenotype CorrelationPathologyDermatologyDermatopathology +1

Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

Mauro Paradisi, Dayle McClintock, Revekka L. Boguslavsky, +3

BMC Cell Biology