Associated Papers
Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.
Shah HH et al.
Frontiers in Medicine, 2025
Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.
Bchetnia M et al.
The Crispr Journal, 2022
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
Ralser DJ et al.
The British Journal of Dermatology, 2020
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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