Five New Homozygous Mutations in the KIND1 Gene in Kindler Syndrome
- 1 September 2007
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 127 (9) , 2268-2270
- https://doi.org/10.1038/sj.jid.5700830
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Aggressive Squamous Cell Carcinoma in Kindler SyndromeSKINmed: Dermatology for the Clinician, 2006
- Kindlin-1 Is a Phosphoprotein Involved in Regulation of Polarity, Proliferation, and Motility of Epidermal KeratinocytesJournal of Biological Chemistry, 2006
- Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1 GeneJournal of Investigative Dermatology, 2006
- Kindler SyndromeArchives of Dermatology, 2006
- Neonatal diagnosis of Kindler syndromeJournal of Dermatological Science, 2005
- Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler SyndromeJournal of Investigative Dermatology, 2004
- A Novel Nonsense Mutation in Kindler SyndromeJournal of Investigative Dermatology, 2004
- Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndromeHuman Molecular Genetics, 2003
- Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factorBritish Journal of Dermatology, 2001
- CONGENITAL POIKILODERMA WITH TRAUMATIC BULLA FOKMATION AND PROGRESSIVE CUTANEOUS ATROPHY.British Journal of Dermatology, 1954