A Novel Insertional Mutation in Loricrin in Vohwinkel’s Keratoderma
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference21 articles.
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2. Variant of keratoderma hereditaria mutilans (Vohwinkel’s Syndrome);Camisa;Arch Dermatol,1984
3. Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein;Candi;J Biol Chem,1995
4. Nuclear targeting sequences – a consensus?;Dingwall;Trends Biochem Sci,1991
5. A case of unusual skin disease;Drummond;Irish J Med Sci,1939
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1. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19
2. The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree;Journal of Dermatological Science;2022-04
3. Exploring Pseudoainhum in Camisa syndrome;Clinical Case Reports;2021-10
4. Loricrin keratoderma: description of a novel mutation, systematic review and meta‐analysis between genotypic and phenotypic features;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2020-08-24
5. Loricrin downregulation and epithelial‐related disorders: a systematic review;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2019-12
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