Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.
Yıldırım TT et al.
The Turkish Journal of Pediatrics, 2017
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C et al.
Human Mutation, 2011
Kindler syndrome: a focal adhesion genodermatosis.
Lai-Cheong JE et al.
The British Journal of Dermatology, 2009
Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.
Kern JS et al.
The Journal of Pathology, 2007
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Ashton GH et al.
The Journal of Investigative Dermatology, 2004
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
Jobard F et al.
Human Molecular Genetics, 2003
Genetic Diagnosis of Kindler Syndrome, a Rare form of Genodermatosis in a Newborn with Identification of a Nonsense Mutation, c. 328C > T, in the FERMT1 Gene in the Indian Population.
Srikumar A et al.
Indian Journal of Dermatology, 0
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