Associated Papers
A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.
Banner L et al.
Clinical and Experimental Dermatology, 2023
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India.
Yenamandra VK et al.
Clinical and Experimental Dermatology, 2017
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.
Yiasemides E et al.
Clinical and Experimental Dermatology, 2008
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.
Tsubota A et al.
The Journal of Investigative Dermatology, 2008
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Lugassy J et al.
American Journal of Human Genetics, 2006
Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.
Has C et al.
The Journal of Investigative Dermatology, 2006
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Müller FB et al.
Human Molecular Genetics, 2006
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Abu Sa'd J et al.
The Journal of Investigative Dermatology, 2006
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