References
- Hay RJ, Wells RS. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition. Br J Dermatol. 1976; 94(3): 277-289.
- Sutton VR, van Bokhoven H. TP63-related disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., Editors. Gene Reviews. Seattle, WA, USA; 1993-2019 https://www.ncbi.nlm.nih.gov/books/NBK43797/
- Zhang Z, Cheng R, Liang J, Lu Z, Wang Y, Li M, et al. Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work. J Dermatol. 2019; 46(5): 422-425.
- Ferone G, Thomason HA, Antonini D, De Rosa L, Hu B, Gemei M, et al. Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome. EMBO Mol Med. 2012; 4(3): 192-205.
- Tomkova H, Fujimoto W, Uchida T, Macko J, Gaillyova R, Buckova H. AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene. Eur J Dermatol. 2010; 20(3): 411-413.
- Ferstl P, Wohlfart S, Schneider H. Sweating ability of patients with p63-associated syndromes. Eur J Pediatr. 2018; 177(11): 1727-1731.
- Guo S, Chen R, Xu Y, Mu Y, Chen L. Ankylo-blepharon-ectodermal defects-cleft lip/palate syndrome. J Craniofac Surg. 2017; 28(4): e349-e351.
- Fete M, van Bokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, et al. International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/ Palate (AEC) syndrome. Am J Med Genet A. 2009; 149A(9): 1885-1893.
- Dishop MK, Bree AF, Hicks MJ. Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A. 2009; 149A(9): 1935-1941.
- Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defectscleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009; 149A(9): 1916-1921.
- Browne G, Cipollone R, Lena AM, Serra V, Zhou H, van Bokhoven H, et al. Differential altered stability and transcriptional activity of DeltaNp63 mutants in distinct ectodermal dysplasias. J Cell Sei. 2011; 124(Pt 13): 2200-2207.
- Sahin MT, Turel-Ermertcan A, Chan I, McGrath JA, Ozturkcan S. Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. Clin Exp Dermatol. 2004; 29(5): 486-488.
- Steele JA, Hansen H, Am P, Kwong PC. Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. Pediatr Dermatol. 2005; 22(5): 415-419.
- Barbara V, Nardiello P, Castaldo G, Willoughby CE, Ferrari S, Ponzin D, et al. A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis. Am J Med Genet A. 2012; 158A(8): 1957-1961.