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The Journal of Investigative Dermatology|June 8, 2007
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?Mariella D'Alessandro, Stephanie E Coats, Susan M Morley, et al.Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.Nature Genetics|March 2, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1David R Goudie, Mariella D'Alessandro, Barry Merriman, et al.Nature Genetics|March 22, 2006
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisColin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, et al.Nature Genetics|October 16, 2012
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratodermaElizabeth Pohler, Ons Mamai, Jennifer Hirst, et al.Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.Pageof 2