The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency
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Citations
Cites
Recognizable Patterns of Human Malformation
Fisher, J. C. (1985) · Annals of Plastic Surgery · doi:10.1097/00000637-198502000-00016 · Cited by 926
Kuroki, Y., Suzuki, Y., Chyo, H., Hata, A., & Matsui, I. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80256-9 · Cited by 461
Recognizable Patterns of Human Malformation
Robinson, R. J. (1977) · Archives of Disease in Childhood · doi:10.1136/adc.52.8.671-b · Cited by 348
Cited by
Lederer, D., Grisart, B., Digilio, M. C., Benoit, V., Crespin, M., Ghariani, S. C., Maystadt, I., Dallapiccola, B., & Verellen-Dumoulin, C. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.021 · Cited by 373
Phenotypic spectrum and management issues in Kabuki syndrome
Kawame, H., Hannibal, M. C., Hudgins, L., & Pagon, R. A. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70207-6 · Cited by 171
Gabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103
Anatomical and functional abnormalities on MRI in kabuki syndrome
Boisgontier, J., Tacchella, J. M., Lemaître, H., Lehman, N., Saitovitch, A., Gatinois, V., Boursier, G., Sanchez, E., Rechtman, E., Fillon, L., et al. (2019) · NeuroImage: Clinical · doi:10.1016/j.nicl.2018.11.020 · Cited by 29
“Additional features include impaired fine motor skills, susceptibility to infections, visual or auditory impairments, dental abnormalities, and cardiovascular, renal and vertebral malformations (Niikawa et al., 1981).”
BackgroundExploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome
van Dongen, L. C. M., Wingbermühle, P. A. M., van der Veld, W. M., Stumpel, C., Kleefstra, T., & Egger, J. I. M. (2019) · Journal of Intellectual Disability Research · doi:10.1111/jir.12597 · Cited by 20
“…the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. groups (Kuroki et al. 1981; Niikawa et al. 1981).”
Background
Metadata
- Authors
- Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T., & Kajii, T.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 1981-10
- Volume
- 99
- Issue
- 4
- Pages
- 565-569
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W1994441122
- Cited by
- 543
- References
- 3
- FWCI
- 1.62
- Type
- journal article
- Language
- en
- Open access
- closed
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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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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency. https://app.cochat.ai/papers/10.1016/s0022-3476(81)80255-7
- The paper
- Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T., & Kajii, T. (1981). Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency. The Journal of Pediatrics. https://doi.org/10.1016/s0022-3476(81)80255-7
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
