Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.
Shah HH, Hussain T, Subash A, Qadir RA, Meshram YR, Shahzad M, Sultan W, Hadi Z, Ashfaque F, Anas Z, Rauf SA, Waseem R, Hussain MS, Zuberi MAW.
Front Med (Lausanne). 2025 Feb 28;12:1453172. doi: 10.3389/fmed.2025.1453172. eCollection 2025.
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
Tubaigy SM, Hassan HM.
J Forensic Sci. 2014 Mar;59(2):555-8. doi: 10.1111/1556-4029.12316. Epub 2013 Nov 21.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
Burger B, Spoerri I, Imahorn E, Wariwoda H, Leeb T, Itin PH.
Br J Dermatol. 2019 Oct;181(4):864-866. doi: 10.1111/bjd.17997. Epub 2019 Jul 15.
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.
Ralser DJ, Kumar S, Borisov O, Sarig O, Richard G, Wolf S, Krawitz PM, Sprecher E, Kreiß M, Betz RC.
Br J Dermatol. 2020 Oct;183(4):756-757. doi: 10.1111/bjd.19123. Epub 2020 May 26.
A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.
Titeux M, Décha A, Pironon N, Tonasso L, Gasc G, Mejía JE, Prost-Squarcioni C, Hovnanian A.
J Invest Dermatol. 2011 Oct;131(10):2131-3. doi: 10.1038/jid.2011.166. Epub 2011 Jul 7.
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
Belligni EF, Dokal I, Hennekam RC.
Eur J Med Genet. 2011 May-Jun;54(3):231-5. doi: 10.1016/j.ejmg.2011.01.001. Epub 2011 Jan 18.
Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.
Itin PH, Burger B.
Dermatology. 2010;221(2):135-6. doi: 10.1159/000314693. Epub 2010 Jun 26.
[Incontinentia pigmenti, Franceschetti-Jadassohn's syndrome].
WOLKOWYSKI E.
Przegl Dermatol. 1956 May-Jun;6(3):219-24.
