Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.

Norrie disease is an X-linked genetic disorder caused by pathogenic mutations in the . Here, we describe the clinical phenotype and genotype in a 19-week-old male infant with bilateral retinal detachment. Whole exome sequencing using available commercial methods on the proband revealed a hemizygous substitution in exon 3 of , which suggests the etiology behind retinal detachment.

European trends in the frequency of original research in acne vulgaris, rosacea, dermatitis, psoriasis, skin cancer, and skin infections, 1970-2010.

We analyzed trends in the frequency of original publications into common dermatologic topics in two premier European journals, the British Journal of Dermatology and the Journal of the European Academy of Dermatology and Venereology. Most notably, we found that psoriasis publications peaked around the mid-to-late 1980's as well as demonstrated an upward trend since the 21st century. Skin cancer research witnessed a gradual increase in the frequency of publications since 1970.