Associated Papers
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
Burger B et al.
The British Journal of Dermatology, 2019
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Lugassy J 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
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