ArticleAmerican journal of medical genetics. Part A2009
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes.Journal of clinical medicine · 2023Article
- A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.Human molecular genetics · 2023Article
- Atrial fibrillation in a pediatric patient caused by an unusual malignant etiology: A case report.Frontiers in pediatrics · 2023Article
- Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations.Indian journal of ophthalmology · 2022Article
- Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.Italian journal of pediatrics · 2021Article
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.Journal of clinical medicine · 2021Review
- Ocular manifestations of ectodermal dysplasia.Orphanet journal of rare diseases · 2021Article
- Multidisciplinary management of ankyloblepharon filiforme adnatum.BMJ case reports · 2020Article
- Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of theBalkan journal of medical genetics : BJMG · 2020Article
- Anatomical analysis of zygomatic bone in ectodermal dysplasia patients with oligodontia.Clinical implant dentistry and related research · 2019Article
- A rare variant of ankyloblepharon filiforme adnatum associated with skin hypopigmentation: A case report from South India.Indian journal of ophthalmology · 2016Article
- Ankyloblepharon Filiforme Adnatum in a Newborn.AJP reports · 2015Article
- Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.Cell communication & adhesion · 2014Review
- Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.EMBO molecular medicine · 2012Article
- Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2011Article
- Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome.Iranian journal of pediatrics · 2011Article
- Ectodermal Dysplasia - An Overview and Update.Indian dermatology online journalReview
- Hay-Wells syndrome: the challenges of a nine-year follow-up.Anais brasileiros de dermatologiaArticle
Corrections and comments
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Authors and funding
15 authors at 12 institutions in 5 countries.
Funding
Abstract
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in TP63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present 11 manuscripts within this special section that outline the collective clinical, pathologic, and mutational data from 18 individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping-stone to future translational projects of TP63 and TP63-related syndromes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.