Third case of a distinct variant of the Ehlers‐Danlos Syndrome (EDS)
Abstract
A 16‐year‐old boy was diagnosed as having EDS. Analysis of this patient together with two previously reported cases supported a distinct variant of the EDS, probably caused by an autosomal dominant mutation.
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Hernandez et al. [1979, 1981, 1986] reported five patients with EDS-features and features of early aging, including wrinkled facies, significant growth failure, fine/curly hair, periodontitis, bilateral cryptorchidism, and apparent intellectual deficit.
“Hernandez et al. [1979Hernandez et al. [ , 1981Hernandez et al. [ , 1986] ] reported five patients with EDS-features and features of early aging, including wrinkled facies, significant growth failure, fine/curly hair, periodontitis, bilateral cryptorchidism, apparent intellectual deficit.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Hernandez et al., 1981
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The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Faiyaz‐Ul‐Haque, M., Zaidi, S. H. E., Al‐Ali, M., Al‐Mureikhi, M. S., Kennedy, S., Al‐Thani, G., Tsui, L., & Teebi, A. S. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30005 · Cited by 111 · see citing works
Guo, M. H., Stoler, J., Lui, J., Nilsson, O., Bianchi, D. W., Hirschhorn, J. N., & Dauber, A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36128 · Cited by 52 · see citing works
- Authors
- Hernández, A., Aguirre‐Negrete, M. G., Liparoli, J. C., & Cantú, J. M.
- Affiliations
- Mexican Social Security Institute (MX)
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 1981-09
- Volume
- 20
- Issue
- 3
- Pages
- 222-224
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1966837843
- Cited by
- 27
- References
- 0
- Citations by year
- 2022: 2 · 2021: 2 · 2020: 1 · 2019: 3 · 2017: 3 · 2016: 1 · 2014: 1 · 2013: 2
- FWCI
- 0.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ford Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- Ehlers-Danlos syndrome, autosomal dominant inheritance, genetic mutations, connective tissue diseases, adolescent patient
- MeSH terms
- Adolescent, Ehlers-Danlos Syndrome, Genes, Dominant, Humans, Male, Intellectual Disability
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