The DOI matches its Crossref record.
Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder
Abstract
Contains fulltext : 57363.pdf (Publisher’s version ) (Open Access)
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Rapp-Hodgkin syndrome is an allelic disorder now considered a variant of AEC syndrome.
“Rapp–Hodgkin syndrome is an allelic disorder that is now considered a variant of AEC syndrome.[56]”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [56]
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No references could be resolved yet.
Research works printed but not linked: 12
- 10.1086/302972 · DOI
- 10.1093/hmg/10.3.221 · DOI
- 10.1038/sj.ejhg.5200676 · DOI
- 10.1086/323123 · DOI
- 10.1086/341450 · DOI
- 10.1177/154405910308200606 · DOI
- 10.1038/sj.ejhg.5201004 · DOI
- 10.1111/j.1365-2133.1994.tb06891.x · DOI
- 10.1046/j.1525-1470.2000.01756.x · DOI
- 10.1046/j.1365-2133.2003.05423.x · DOI
- 10.1136/jmg.39.8.559 · DOI
- 10.1136/jmg.40.12.e133 · DOI
Cited by
Sorted by citations
Rinne, T., Bolat, E., Meijer, R., Scheffer, H., & van Bokhoven, H. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32793 · Cited by 60
Self-citationEctodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19
“[56] The lack of ankyloblepharon in Rapp–Hodgkin syndrome is the only significant difference.”
Background
Metadata
- Authors
- Bertola, D., Kim, C., Albano, L., Scheffer, H., Meijer, R., & Van Bokhoven, H.
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2004-06-16
- Volume
- 66
- Issue
- 1
- Pages
- 79-80
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1602367289
- Cited by
- 60
- References
- 0
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 4 · 2023: 2 · 2022: 2 · 2020: 2 · 2019: 3 · 2018: 3 · 2017: 1 · 2015: 3 · 2014: 3 · 2013: 3 · 2012: 3
- FWCI
- 2.65
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Keywords
- AEC syndrome, Rapp-Hodgkin syndrome, variable expressivity, genetic heterogeneity, monogenic disorders, molecular diagnosis, inherited retinal degeneration, retinal pigment epithelium
- MeSH terms
- Cleft Lip, Cleft Palate, DNA-Binding Proteins, Ectodermal Dysplasia, Female, Humans, Male, Mutation, Phosphoproteins, Syndrome, Transcription Factors, Trans-Activators, Genes, Tumor Suppressor, Protein Structure, Tertiary, Tumor Suppressor Proteins
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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