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Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
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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.
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.
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.
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.
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