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TP63-Related Disorders.
Sutton VR, van Bokhoven H. Sutton VR, et al. 2010 Jun 8 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Jun 8 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20556892 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) …
CLINICAL CHARACTERISTICS: The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-c …
Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
Farrington F, Lausten L. Farrington F, et al. Am J Med Genet A. 2009 Sep;149A(9):1907-9. doi: 10.1002/ajmg.a.32790. Am J Med Genet A. 2009. PMID: 19681142
This article outlines the dental conditions and treatment findings of individuals ranging in age from 4 months to 30 years of age diagnosed with ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. ...The dentition …
This article outlines the dental conditions and treatment findings of individuals ranging in age from 4 months to 30 years of age diagnosed …
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
Gonzalez F, Loidi L, Abalo-Lojo JM. Gonzalez F, et al. Ophthalmic Genet. 2017 May-Jun;38(3):277-280. doi: 10.1080/13816810.2016.1210649. Epub 2016 Aug 2. Ophthalmic Genet. 2017. PMID: 27485918
BACKGROUND: Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome is a disorder resulting from anomalous embryonic development of ectodermal tissues. There is evidence that AEC syndrome is caused by mutations …
BACKGROUND: Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome is a disor …
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. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the anky …
A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although a …
Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP. Yapijakis C, et al. Adv Exp Med Biol. 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. Adv Exp Med Biol. 2023. PMID: 37525042
All HED patients were hemizygous for deletions in the EDA1 gene (Xq13.1): three related patients had a 20 bp deletion, one had a 19 bp deletion, and one had a 180 bp deletion. A female patient had the rare autosomal dominant syndrome of ankyloblepharon-ectodermal
All HED patients were hemizygous for deletions in the EDA1 gene (Xq13.1): three related patients had a 20 bp deletion, one had a 19 bp delet …
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.
Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Sutton VR, et al. Am J Med Genet A. 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791. Am J Med Genet A. 2009. PMID: 19676059
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp-Hodgkin had been thought to be
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin sy
Sweating ability of patients with p63-associated syndromes.
Ferstl P, Wohlfart S, Schneider H. Ferstl P, et al. Eur J Pediatr. 2018 Nov;177(11):1727-1731. doi: 10.1007/s00431-018-3227-6. Epub 2018 Aug 7. Eur J Pediatr. 2018. PMID: 30088137
Sweating deficiency has been reported to represent a cardinal symptom of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome
Sweating deficiency has been reported to represent a cardinal symptom of ectrodactyly-ectodermal dysplasia-cleft lip/ …
Ankyloblepharon, ectodermal dysplasia, cleft lip and palate (AEC) syndrome: surgical corrections with an 18-year follow-up including maxillary osteotomy.
Satoh K, Tosa Y, Ohtsuka S, Onizuka T. Satoh K, et al. Plast Reconstr Surg. 1994 Mar;93(3):590-4. Plast Reconstr Surg. 1994. PMID: 8115517
A rare case of AEC syndrome is presented. Surgical corrections and an 18-year follow-up, including maxillary advancement osteotomy, are described....
A rare case of AEC syndrome is presented. Surgical corrections and an 18-year follow-up, including maxillary advancement osteotomy, a …
[Trichothiodystrophy: progresssive manifestations].
Foulc P, Jumbou O, David A, Sarasin A, Stalder JF. Foulc P, et al. Ann Dermatol Venereol. 1999 Oct;126(10):703-7. Ann Dermatol Venereol. 1999. PMID: 10604009 Free article. French.
In addition to psychomotor retardation, the patient presented a dysmorphic syndrome (poorly rimmed low-set ears; thick, triangular upper lip; scaphocephalic skull; short hands) and congenital bilateral cataract. ...Other ectodermal dysplasias can be complicated by h …
In addition to psychomotor retardation, the patient presented a dysmorphic syndrome (poorly rimmed low-set ears; thick, triangular up …
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.
Kantaputra PN, Malaivijitnond S, Vieira AR, Heering J, Dötsch V, Khankasikum T, Sripathomsawat W. Kantaputra PN, et al. Am J Med Genet A. 2011 Jun;155A(6):1432-6. doi: 10.1002/ajmg.a.34011. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567929
Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. ...Here, we report on a SAM domain muta …
Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal d
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