Article
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
American journal of human genetics - 1 Oct 2006
Lugassy Jennie, Itin Peter, Ishida-Yamamoto Akemi, Holland Kristen, Huson Susan, Geiger Dan, Hennies Hans Christian, Indelman Margarita, Bercovich Dani, Uitto Jouni, Bergman Reuven, McGrath John A, Richard Gabriele, Sprecher Eli
Abstract excerpt
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.