Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

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, thic...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592572/
https://ncbi.nlm.nih.gov/pubmed/16960809
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