Ellis-Van Creveld Syndrome
"Ellis-Van Creveld Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
| Descriptor ID |
D004613
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| MeSH Number(s) |
C05.116.099.708.327 C16.131.077.350.398 C16.131.831.350.398 C16.320.850.250.398 C17.800.804.350.398 C17.800.827.250.398
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| Concept/Terms |
Ellis-Van Creveld Syndrome- Ellis-Van Creveld Syndrome
- Ellis Van Creveld Syndrome
- Syndrome, Ellis-Van Creveld
- Ellis-Van Creveld Dysplasia
- Dysplasia, Ellis-Van Creveld
- Ellis Van Creveld Dysplasia
- Mesoectodermal Dysplasia
- Dysplasia, Mesoectodermal
- Mesoectodermal Dysplasias
- Chondroectodermal Dysplasia
- Chondroectodermal Dysplasias
- Dysplasia, Chondroectodermal
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Below are MeSH descriptors whose meaning is more general than "Ellis-Van Creveld Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Ellis-Van Creveld Syndrome".
This graph shows the total number of publications written about "Ellis-Van Creveld Syndrome" by people in this website by year, and whether "Ellis-Van Creveld Syndrome" was a major or minor topic of these publications.
Below are the most recent publications written about "Ellis-Van Creveld Syndrome" by people in Profiles.
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Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. Nat Genet. 2021 04; 53(4):467-476.
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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med. 2020 11 06; 12(11):e11739.
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Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. Congenit Anom (Kyoto). 2019 Mar; 59(2):49-50.
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Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. Am J Med Genet A. 2017 Jun; 173(6):1698-1704.
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Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice. PLoS Genet. 2016 Dec; 12(12):e1006510.
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Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. Congenit Anom (Kyoto). 2016 Sep; 56(5):209-16.
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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug; 17(8):1074-1087.
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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 05; 6:7074.
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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013 Nov 07; 93(5):932-44.
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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 2013 Nov 07; 93(5):926-31.