[1] |
Propping P, Zerres K. ADULT⁃syndrome: an autosomal⁃dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia[J]. Am J Med Genet, 1993,45(5):642⁃648. doi: 10.1002/ajmg.1320450525.
|
[2] |
Wang X, Yang J, Tao AL, et al. Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome[J]. Chin Med J (Engl), 2009,122(16):1867⁃1871. doi: 10.3760/cma.j.issn.0366⁃6999.2009.16.006.
|
[3] |
Duchatelet S, Russo C, Osterburg C, et al. A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia[J]. J Invest Dermatol, 2020,140(5):1103⁃1106.e4. doi: 10.1016/j.jid.2019.06.154.
|
[4] |
Rinne T, Brunner HG, van Bokhoven H. p63⁃associated disorders[J]. Cell Cycle, 2007,6(3):262⁃268. doi: 10.4161/cc. 6.3.3796.
|
[5] |
Goldsmith T, Eytan O, Magal L, et al. A mutation in TP63 causing a mild ectodermal dysplasia phenotype[J]. J Invest Dermatol, 2014,134(8):2277⁃2280. doi: 10.1038/jid.2014.159.
|
[6] |
de Almeida HL Jr, van Steensel M, Rocha A, et al. ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation[J]. Int J Dermatol, 2019,58(3):e72⁃e75. doi: 10.1111/ijd.14359.
|
[7] |
Kantaputra PN, Carlson BM. Genetic regulatory pathways of split⁃hand/foot malformation[J]. Clin Genet, 2019,95(1):132⁃139. doi: 10.1111/cge.13434.
|
[8] |
Yang A, Schweitzer R, Sun D, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development[J]. Nature, 1999,398(6729):714⁃718. doi: 10. 1038/19539.
|
[9] |
Riege K, Kretzmer H, Sahm A, et al. Dissecting the DNA binding landscape and gene regulatory network of p63 and p53[J]. Elife, 2020,9:e63266. doi: 10.7554/eLife.63266.
|
[10] |
Soares E, Zhou H. Master regulatory role of p63 in epidermal development and disease[J]. Cell Mol Life Sci, 2018,75(7):1179⁃1190. doi: 10.1007/s00018⁃017⁃2701⁃z.
|
[11] |
van Bokhoven H, Hamel BC, Bamshad M, et al. p63 Gene mutations in EEC syndrome, limb⁃mammary syndrome, and isolated split hand⁃split foot malformation suggest a genotype⁃phenotype correlation[J]. Am J Hum Genet, 2001,69(3):481⁃492. doi: 10.1086/323123.
|
[12] |
Celik TH, Buyukcam A, Simsek⁃Kiper PO, et al. A newborn with overlapping features of AEC and EEC syndromes[J]. Am J Med Genet A, 2011,155A(12):3100⁃3103. doi: 10.1002/ajmg.a.34328.
|
[13] |
Ruml J, Cuturilo G, Lukac M, et al. Ectodermal defects and anal atresia in a child with a TP63 mutation⁃⁃expanding the phenotypic spectrum[J]. Pediatr Dermatol, 2015,32(3):421⁃422. doi: 10.1111/pde.12395.
|
[14] |
Whittington A, Stein S, Kenner⁃Bell B. Acro⁃dermato⁃ungual⁃lacrimal⁃tooth syndrome: an uncommon member of the ectodermal dysplasias[J]. Pediatr Dermatol, 2016,33(5):e322⁃e326. doi: 10.1111/pde.12938.
|
[15] |
Enthart A, Klein C, Dehner A, et al. Solution structure and binding specificity of the p63 DNA binding domain[J]. Sci Rep, 2016,6:26707. doi: 10.1038/srep26707.
|
[16] |
Russo C, Osterburg C, Sirico A, et al. Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome[J]. Proc Natl Acad Sci U S A, 2018,115(5):E906⁃E915. doi: 10.1073/pnas.1713773115.
|