| 1 | DPIR, KRT14
|
| A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation.
|
| Goh BK, Common JE, Gan WH, Kumarasinghe P.
|
| Clin Exp Dermatol 34(3):340-3. doi: 10.1111/j.1365-2230.2008.02950.x. Epub 2008 Nov 24.
2009
|
| 2 | KRT14, DPIR, NFJ
|
| Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
|
| Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E.
|
| Am J Hum Genet 79(4):724-30. Epub 2006 Aug 25. 2006
|
| 3 | DPIR, KRT14
|
| Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
|
| Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G.
|
| J Invest Dermatol 119(3):692-8. 2002
|
| 4 | DPIR
|
| The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
|
| Whittock NV, Coleman CM, McLean WH, Ashton GH, Acland KM, Eady RA, McGrath JA.
|
| J Invest Dermatol 115(4):694-8.
2000
|