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The British Journal of Dermatology|July 2, 2011
Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assayM Refke, S M Pasternack, B Fiebig, et al.
Clinical and Experimental Dermatology|October 28, 2016
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literatureC Kasparis, D Reid, N J Wilson, et al.
The Journal of Dermatology|August 29, 2025
Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar KeratodermaSohail Ahmed, Nicole Cesarato, Ye Li, et al.
Archives of Dermatological Research|September 30, 2008
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern familiesSagi Nahum, Sandra M Pasternack, Jana Pforr, et al.
Human Mutation|January 3, 2022
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex developmentHannah L Marko, Nadine C Hornig, Regina C Betz, et al.
Experimental Dermatology|June 18, 2026
Do Alopecia Areata and Hair Colour Have a Shared Genetic Component?Leonie Rieger-Molitor, Carlo Maj, Silke Redler, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 8, 2010
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosinCécile Caubet, Luc Bousset, Ole Clemmensen, et al.
American Journal of Medical Genetics. Part A|July 2, 2015
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromesBenjamin Gollasch, Fitnat Buket Basmanav, Arti Nanda, et al.
The British Journal of Dermatology|July 19, 2024
A nonsense variant in KRT31 is associated with autosomal dominant monilethrixXing Xiong, Nicole Cesarato, Yasmina Gossmann, et al.
Cancer Research|January 16, 2015
Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinomaAntonio Mazzocca, Francesco Dituri, Flavia De Santis, et al.
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