Indian Dermatol Online J. 2020 Jan 24;11(4):670-671. doi: 10.4103/idoj.IDOJ_347_19. eCollection 2020 Jul-Aug.
PMID:32832475
PIK3CA-Related Overgrowth Spectrum.
Mirzaa G, Graham JM Jr, Keppler-Noreuil K.
2013 Aug 15 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:23946963
Focal facial dermal dysplasia type IV: a case series.
Gnesotto L, Cutrone M, Ruggiero G, Morando C, Belloni Fortina A, Patrizi A, Naldi L, Sechi A.
Pediatr Dermatol. 2019 Jan;36(1):e58-e59. doi: 10.1111/pde.13730. Epub 2018 Dec 18.
PMID:30561078
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ.
J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29.
PMID:28663233
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ.
Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16.
PMID:23161670
Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China.
Cao Q, Zhang S, Wang J, Wang Y, Pan C, Wang X, Zhao A, Chen X, Qin P, Zhang S, Yao Z, Lv D, Yang Y, Li M.
J Dermatol. 2022 Oct;49(10):1057-1061. doi: 10.1111/1346-8138.16488. Epub 2022 Jun 17.
PMID:35713327
Familial focal facial dermal dysplasia.
McGeoch AH, Reed WB.
Arch Dermatol. 1973 Apr;107(4):591-5.
PMID:4697690
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.
Beyens A, Van De Voorde S, Guerreiro Santano Ramos Da Silva M, De Meulemeester S, Devriendt K, Goeteyn M, Janssens S, Kooy RF, Rosseel T, Symoens S, Hes FJ, Keymolen K, Dimitrov B, Callewaert B.
Clin Genet. 2025 May;107(5):579-581. doi: 10.1111/cge.14705. Epub 2025 Jan 19.