[AEC syndrome: ankyloblepharon, ectodermal defect, cleft lip and palate (Hay-Wells syndrome)].
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.
Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.
Guo S, Chen R, Xu Y, Mu Y, Chen L.
J Craniofac Surg. 2017 Jun;28(4):e349-e351. doi: 10.1097/SCS.0000000000003600.
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Hori A, Migita O, Isogawa N, Takada F, Hata K.
Hum Genome Var. 2022 May 20;9(1):17. doi: 10.1038/s41439-022-00186-w.
TP63-Related Disorders.
Sutton VR, van Bokhoven H.
2010 Jun 8 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.
Chopra A, Mitra D, Kandpal R, Agarwal R.
Int J Trichology. 2018 Jan-Feb;10(1):17-20. doi: 10.4103/ijt.ijt_55_17.
Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.
Cabiling DS, Yan AC, McDonald-McGinn DM, Zackai EH, Kirschner RE.
Cleft Palate Craniofac J. 2007 May;44(3):335-9. doi: 10.1597/06-065.
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
Serra G, Antona V, Giuffré M, Li Pomi F, Lo Scalzo L, Piro E, Schierz IAM, Corsello G.
Ital J Pediatr. 2021 Sep 28;47(1):196. doi: 10.1186/s13052-021-01152-y.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews.
Jenwitheesuk K, Surakunprapha P, Chowchuen B, Jetsrisuparb C.
J Med Assoc Thai. 2010 Oct;93 Suppl 4:S78-82.
Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome.
Motil KJ, Fete TJ.
Am J Med Genet A. 2009 Sep;149A(9):1922-5. doi: 10.1002/ajmg.a.32789.
Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.
Tajir M, Lyahyai J, Guaoua S, El Alloussi M, Sefiani A.
Balkan J Med Genet. 2020 Aug 26;23(1):95-98. doi: 10.2478/bjmg-2020-0013. eCollection 2020 Jun.
Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.
Zhang Z, Cheng R, Liang J, Lu Z, Wang Y, Li M, Yu H, Yao Z.
J Dermatol. 2019 May;46(5):422-425. doi: 10.1111/1346-8138.14837. Epub 2019 Feb 27.
