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Ankyloblepharon-ectodermal dysplasia-clefting syndrome.
Ramya BG, Gondane S, Kumar S, Dangi S. Ramya BG, et al. Indian J Dermatol Venereol Leprol. 2015 Nov-Dec;81(6):629-30. doi: 10.4103/0378-6323.168333. Indian J Dermatol Venereol Leprol. 2015. PMID: 26515851 Free article. No abstract available.
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. Zhang Z, et al. J Dermatol. 2019 May;46(5):422-425. doi: 10.1111/1346-8138.14837. Epub 2019 Feb 27. J Dermatol. 2019. PMID: 30809829 Review.
A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. ...In this work we review the clinical features, differential diagnosis and prognosis in AEC syndrome....
A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. ...In this work we revie …
Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.
Cabiling DS, Yan AC, McDonald-McGinn DM, Zackai EH, Kirschner RE. Cabiling DS, et al. Cleft Palate Craniofac J. 2007 May;44(3):335-9. doi: 10.1597/06-065. Cleft Palate Craniofac J. 2007. PMID: 17477760 Review.
Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. ...Cleft lip and palate repair can be performed safely in patients with Hay-Wel …
Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblephar …
Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.
Sawardekar SS, Zaenglein AL. Sawardekar SS, et al. Pediatr Dermatol. 2011 May-Jun;28(3):313-7. doi: 10.1111/j.1525-1470.2010.01207.x. Epub 2010 Aug 4. Pediatr Dermatol. 2011. PMID: 20738799
Here, we report the case of an infant born with severe ectodermal dysplasia including generalized neonatal erosions with scalp involvement, facial clefting but notably without ankyloblepharon. ...To our knowledge, this is a novel mutation that has not previously bee …
Here, we report the case of an infant born with severe ectodermal dysplasia including generalized neonatal erosions with scalp …
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.
Helenius K, Ojala L, Kainulainen L, Peltonen S, Hietala M, Pohjola P, Parikka V. Helenius K, et al. Eur J Med Genet. 2023 May;66(5):104735. doi: 10.1016/j.ejmg.2023.104735. Epub 2023 Feb 28. Eur J Med Genet. 2023. PMID: 36863510 Free article.
Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. ...This division is complicated by s …
Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia- …