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Naegeli-Franceschetti-Jadassohn sendromu

Kalıtsal - AD

Dişler sarı renkli

Yaygın çürükler

Erken diş kayıpları

Deride retiküler pigmentasyon (ağız ve göz çevresi, boyun, gövde)

Terleme az

Parmakizleri yok

Palmoplantar keratoderma

Kırılgan tırnaklar

Paşparmak tırnakları agenezi

Sıcağa dayanıksızlık

  • Franceschetti A, Jadassohn W. A propos de l'incontinentia pigmenti, delimitation de deux syndromes differents figurant sous le meme terme. Dermatologica, 108: 1-28, 1954

  • Whittock NV, Coleman CM, McLean WHI, et al. The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. Journal of Investigative Dermatology, 115: 694-698, 2000

  • Sprecher E, Itin P, Whittock NV, et al. Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. Journal of Investigative Dermatology, 119: 692-698, 2002

  • Lugassy J, Itin P, Ishida-Yamamoto A, et al. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. American Journal of Human Genetics, 79: 724-730, 2006