Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.
[AEC syndrome: ankyloblepharon, ectodermal defect, cleft lip and palate (Hay-Wells 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.
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.
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; 1993–2025.
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.
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.
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.
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.
Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF.
Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.
Di Girolamo D, Palumbo S, Antonini D, D'Auria L, Cerbone V, Porcelli T, Cavallo F, Calautti E, Riganti C, Missero C.
Int J Mol Sci. 2025 May 29;26(11):5231. doi: 10.3390/ijms26115231.
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.
Dishop MK, Bree AF, Hicks MJ.
Am J Med Genet A. 2009 Sep;149A(9):1935-41. doi: 10.1002/ajmg.a.32826.
