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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2006
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1592572/
https://ncbi.nlm.nih.gov/pubmed/16960809
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker