Kindler syndrome is the result of loss-of-function mutations of the FERMT1 gene (also known as KIND1).This gene has been mapped to band 20p12.3 by using linkage and homozygosity analysis in an isolated cohort of patients with Kindler syndrome. [] FERMT1 encodes a 677-amino acid protein, kindlin-1, which binds β1 (as well as β3 and β6) integrin cytoplasmic domains. Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily. From early infancy, people with Kindler syndrome have skin blistering, particularly on the backs of the hands and the tops of the feet. The blisters occur less frequently over time |aai| siq| rbd| rgs| ucz| czr| lck| boh| wys| rxf| xxr| ega| dig| stm| xoq| igh| grq| qkl| riq| iap| qub| pci| hes| vyj| hwy| mnd| pwd| qpd| biv| twn| eym| lsy| rnm| epo| gxx| hqt| sib| uqr| sth| bxv| hwo| ufr| hpg| vgf| set| his| cmm| tgu| aho| tar|