|
1
|
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
|
Am J Hum Genet
|
2003
|
2.73
|
|
2
|
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
|
J Invest Dermatol
|
2004
|
1.95
|
|
3
|
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
|
Am J Hum Genet
|
2003
|
1.94
|
|
4
|
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
|
J Invest Dermatol
|
2012
|
1.56
|
|
5
|
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
|
Hum Mol Genet
|
2003
|
0.95
|
|
6
|
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
|
J Invest Dermatol
|
2006
|
0.85
|
|
7
|
Mycosis fungoides with a CD56+ immunophenotype.
|
J Am Acad Dermatol
|
2005
|
0.85
|
|
8
|
Azathioprine as a treatment for severe atopic eczema in children with a partial thiopurine methyl transferase (TPMT) deficiency.
|
Pediatr Dermatol
|
2003
|
0.83
|
|
9
|
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
|
J Invest Dermatol
|
2002
|
0.82
|
|
10
|
Congenital anetoderma in a preterm infant.
|
Pediatr Dermatol
|
2008
|
0.81
|
|
11
|
Successful treatment of laryngeal stenosis in laryngo-onycho-cutaneous syndrome with topical mitomycin C.
|
Pediatr Dermatol
|
2006
|
0.76
|
|
12
|
Clinical resolution of a neonatally eroded giant congenital melanocytic nevus.
|
Pediatr Dermatol
|
2006
|
0.76
|
|
13
|
Topical corticosteroids in atopic dermatitis.
|
BMJ
|
2003
|
0.76
|
|
14
|
Juvenile xanthogranuloma with presumed involvement of the optic disc and retina.
|
Arch Ophthalmol
|
2004
|
0.75
|
|
15
|
Acrodermatitis enteropathica variant with borderline plasma zinc concentrations.
|
J Pediatr Gastroenterol Nutr
|
2011
|
0.75
|