Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2007.08219.x/fullpdf
Reference8 articles.
1. CONGENITAL POIKILODERMA WITH TRAUMATIC BULLA FOKMATION AND PROGRESSIVE CUTANEOUS ATROPHY.
2. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
3. Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome
4. The Kindler Syndrome Protein Is Regulated by Transforming Growth Factor-β and Involved in Integrin-mediated Adhesion
5. Kindlin-1 Is a Phosphoprotein Involved in Regulation of Polarity, Proliferation, and Motility of Epidermal Keratinocytes
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1. A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome;Experimental and Therapeutic Medicine;2020-09-17
2. Kindlin-1 Regulates Keratinocyte Electrotaxis;Journal of Investigative Dermatology;2016-11
3. Kindler syndrome, an orphan disease of cell/matrix adhesion in the skin – molecular genetics and therapeutic opportunities;Expert Opinion on Orphan Drugs;2016-07-14
4. Oral manifestations in Kindler syndrome: case report and discussion of literature findings;Special Care in Dentistry;2016-01-27
5. A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases;Journal of Investigative Dermatology;2015-11
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