Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

@article{Lugassy2006NaegeliFranceschettiJadassohnSA,
  title={Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.},
  author={Jennie Lugassy and PeterH. Itin and Akemi Ishida-Yamamoto and Kristen Holland and Susan Mary Huson and Dan Geiger and Hans Christian Hennies and Margarita Indelman and Dani Bercovich and Jouni Uitto and R. Theodore Bergman and John A McGrath and Guillande Richard and Eli Sprecher},
  journal={American journal of human genetics},
  year={2006},
  volume={79 4},
  pages={
          724-30
        }
}
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 anomalies of the teeth, hair, and skin. To decipher the molecular basis of these disorders… CONTINUE READING

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